Variant report

Variant	rs7792544
Chromosome Location	chr7:38408479-38408480
allele	A/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	CTCF	chr7:38407543-38408550	SK-N-SH	brain:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
2	POLR2A	chr7:38408436-38408480	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TRGV1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10235885	0.85[ASW][hapmap];0.91[LWK][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs10265889	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10269828	1.00[EUR][1000 genomes]
rs10278158	1.00[EUR][1000 genomes]
rs28398020	1.00[EUR][1000 genomes]
rs7790709	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv1021462	chr7:38384841-38418165	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1032769	chr7:38384841-38418465	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	esv1849113	chr7:38387508-38411786	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1034617	chr7:38391353-38415389	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38389600-38413800	Weak transcription	K562	blood
2	chr7:38398600-38414600	Weak transcription	Placenta	Placenta
3	chr7:38404400-38410800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:38406200-38410200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:38406200-38410600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr7:38406200-38410800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:38406400-38408600	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:38406400-38408600	Enhancers	Fetal Intestine Large	intestine
9	chr7:38406400-38409800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:38406400-38410200	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:38406600-38410200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:38406800-38408600	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:38407000-38412800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:38407200-38408600	Enhancers	Primary B cells from cord blood	blood
15	chr7:38407200-38409200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:38407200-38409400	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:38407200-38411600	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr7:38407400-38408600	Enhancers	Thymus	Thymus
19	chr7:38407400-38409200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:38407400-38409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:38407400-38409200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:38407400-38409400	Weak transcription	HSMMtube	muscle
23	chr7:38407400-38409600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:38407400-38410000	Enhancers	GM12878-XiMat	blood
25	chr7:38407400-38410600	Enhancers	Primary T cells from cord blood	blood
26	chr7:38407600-38409200	Weak transcription	HSMM	muscle
27	chr7:38407600-38409200	Weak transcription	Osteobl	bone
28	chr7:38407600-38410200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:38407600-38410400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:38407600-38410400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:38407600-38410600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:38407600-38412200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr7:38407800-38409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:38407800-38409400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr7:38407800-38410000	Genic enhancers	Dnd41	blood
36	chr7:38408000-38408600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:38408000-38410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:38408000-38410200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:38408000-38410200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:38408000-38410200	Genic enhancers	Fetal Thymus	thymus
41	chr7:38408000-38411800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:38408200-38408600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:38408200-38408800	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:38408200-38408800	Weak transcription	Brain Substantia Nigra	brain
45	chr7:38408200-38409200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:38408200-38409200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:38408200-38409200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:38408200-38409400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:38408200-38409400	Weak transcription	Fetal Intestine Small	intestine
50	chr7:38408200-38409400	Weak transcription	Right Atrium	heart

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