Variant report

Variant	rs113354949
Chromosome Location	chr7:38388910-38388911
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:38388552-38389029	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:38388598-38389086	GM12891	blood:	n/a	n/a
3	EBF1	chr7:38388600-38389248	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:38388332-38390017	GM12878	blood:	n/a	n/a
5	TCF3	chr7:38388513-38389130	GM12878	blood:	n/a	n/a
6	SP1	chr7:38388670-38389061	GM12878	blood:	n/a	chr7:38388751-38388763 chr7:38388753-38388767 chr7:38388752-38388762 chr7:38388751-38388763 chr7:38388752-38388761
7	POLR2A	chr7:38388202-38390056	GM12892	blood:	n/a	n/a
8	POU2F2	chr7:38388449-38389215	GM12878	blood:	n/a	n/a
9	IRF4	chr7:38388471-38389111	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:38388838-38389878	GM12892	blood:	n/a	n/a
11	GATA2	chr7:38388492-38388972	K562	blood:	n/a	chr7:38388862-38388872
12	PAX5	chr7:38388406-38388960	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:38388865-38389872	GM19099	blood:	n/a	n/a
14	POLR2A	chr7:38388889-38389841	GM12878	blood:	n/a	n/a
15	PAX5	chr7:38388296-38388984	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:38388826-38389892	GM19193	blood:	n/a	n/a
17	POLR2A	chr7:38388378-38390071	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:38388534-38390175	GM12892	blood:	n/a	n/a
19	EBF1	chr7:38388738-38389126	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:38388861-38389845	GM12891	blood:	n/a	n/a
21	BATF	chr7:38388801-38389033	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:38388614-38389951	GM12878	blood:	n/a	n/a
23	SP1	chr7:38388542-38389134	GM12878	blood:	n/a	chr7:38388751-38388763 chr7:38388753-38388767 chr7:38388752-38388762 chr7:38388751-38388763 chr7:38388752-38388761
24	RUNX3	chr7:38388759-38389064	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:38388710-38389935	GM12892	blood:	n/a	n/a
26	BATF	chr7:38388739-38389137	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:38388573-38389022	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38383736..38385810-chr7:38388077..38391054,2	MCF-7	breast:
2	chr7:38378957..38381571-chr7:38387227..38389473,2	K562	blood:

Variant related genes	Relation type
TRGV5P	TF binding region
ENSG00000226212	Chromatin interaction
ENSG00000228668	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1027803	chr7:38257707-38410660	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv538820	chr7:38257707-38410660	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv433054	chr7:38268395-38403367	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv433049	chr7:38268395-38404971	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	esv2755783	chr7:38271544-38404971	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	esv1000823	chr7:38271623-38390120	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	esv33146	chr7:38288048-38406196	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv820039	chr7:38289515-38411222	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	nsv824074	chr7:38293736-38404608	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
18	esv2757222	chr7:38294079-38418165	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
19	nsv1016455	chr7:38294089-38402496	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
20	nsv429718	chr7:38311098-38404971	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv519863	chr7:38318590-38417556	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	nsv1016931	chr7:38319339-38398047	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
26	nsv1030938	chr7:38330837-38392024	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
27	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv1033238	chr7:38356595-38400945	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv1028718	chr7:38356733-38396464	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
30	nsv1029851	chr7:38357075-38398047	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
31	nsv1016651	chr7:38357133-38405085	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	nsv824077	chr7:38357188-38395465	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	nsv1033526	chr7:38358227-38405085	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
34	esv1803652	chr7:38372659-38407572	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
35	nsv966780	chr7:38374343-38407875	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
36	esv1797294	chr7:38377067-38406167	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
37	nsv1016350	chr7:38378718-38418165	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
38	esv1850821	chr7:38378932-38411586	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
39	esv1847734	chr7:38379798-38408244	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
40	nsv8078	chr7:38379856-38406195	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
41	nsv5707	chr7:38380984-38407182	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
42	esv3445076	chr7:38381427-38390420	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
43	esv3478168	chr7:38381805-38390633	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
44	esv3478169	chr7:38381805-38390633	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
45	nsv824078	chr7:38382278-38395465	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
46	esv1844806	chr7:38382308-38406367	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
47	esv1801754	chr7:38383309-38411786	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
48	esv1796040	chr7:38383509-38407248	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
49	esv1801707	chr7:38383509-38411586	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
50	nsv1020630	chr7:38384841-38415389	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38381200-38389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:38381400-38389200	Weak transcription	Fetal Stomach	stomach
3	chr7:38381400-38408000	Weak transcription	Right Atrium	heart
4	chr7:38382000-38389200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:38383600-38389000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:38384800-38390800	Active TSS	Thymus	Thymus
7	chr7:38385600-38389000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:38385800-38389000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:38385800-38389000	Weak transcription	GM12878-XiMat	blood
10	chr7:38385800-38389200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:38385800-38389200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:38386000-38389000	Weak transcription	Primary T cells from cord blood	blood
13	chr7:38386000-38389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:38386000-38389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:38386000-38389200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:38386000-38389200	Weak transcription	K562	blood
17	chr7:38386800-38390600	Enhancers	Primary B cells from cord blood	blood
18	chr7:38387400-38389200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:38388200-38389000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:38388200-38389200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:38388400-38389200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:38388600-38389000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:38388600-38389200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:38388600-38390200	Flanking Active TSS	Fetal Thymus	thymus
25	chr7:38388600-38390400	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:38388600-38391000	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:38388800-38389000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:38388800-38389200	Active TSS	Dnd41	blood
29	chr7:38388800-38389600	Enhancers	Spleen	Spleen
30	chr7:38388800-38390000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:38388800-38390600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:38388800-38390600	Active TSS	Duodenum Mucosa	Duodenum
33	chr7:38388800-38391800	Active TSS	Primary T cells fromperipheralblood	blood
34	chr7:38388800-38394200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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