Variant report

Variant	rs542324617
Chromosome Location	chr2:231191393-231191394
allele	-/A
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	POLR2A	chr2:231191367-231192268	U87	brain:	n/a	n/a
2	YY1	chr2:231191387-231192086	GM12878	blood:	n/a	chr2:231191513-231191522
3	POLR2A	chr2:231190979-231192385	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:231190069-231192265	GM12892	blood:	n/a	n/a
5	JUN	chr2:231191149-231192517	K562	blood:	n/a	chr2:231191860-231191872 chr2:231192171-231192180 chr2:231191862-231191870
6	POLR2A	chr2:231191356-231192186	HCT-116	colon:	n/a	n/a
7	POLR2A	chr2:231190699-231192353	GM12878	blood:	n/a	n/a
8	MAX	chr2:231191288-231191575	K562	blood:	n/a	n/a
9	POLR2A	chr2:231191335-231191401	Hela-S3	cervix:	n/a	n/a
10	STAT5A	chr2:231191336-231192231	GM12878	blood:	n/a	chr2:231191881-231191888 chr2:231191819-231191830
11	POLR2A	chr2:231190827-231192324	GM12892	blood:	n/a	n/a
12	MAX	chr2:231191393-231192559	HepG2	liver:	n/a	n/a
13	MTA3	chr2:231191347-231192338	GM12878	blood:	n/a	n/a
14	ELF1	chr2:231191390-231192360	GM12878	blood:	n/a	chr2:231191642-231191651
15	E2F6	chr2:231191364-231191561	K562	blood:	n/a	n/a
16	TEAD4	chr2:231191359-231192191	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:231191347-231192496	GM12891	blood:	n/a	n/a
18	ELF1	chr2:231191384-231192130	HepG2	liver:	n/a	chr2:231191642-231191651
19	CEBPB	chr2:231191349-231192572	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:231191334-231192598	K562	blood:	n/a	n/a
21	POU2F2	chr2:231191219-231192109	GM12891	blood:	n/a	n/a
22	POLR2A	chr2:231191253-231192424	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:231190632-231192210	GM12892	blood:	n/a	n/a
24	MXI1	chr2:231191218-231192414	IMR90	lung:	n/a	n/a
25	ELF1	chr2:231191373-231192057	GM12878	blood:	n/a	chr2:231191642-231191651
26	MYBL2	chr2:231191370-231192147	HepG2	liver:	n/a	n/a
27	ELF1	chr2:231191385-231192084	HepG2	liver:	n/a	chr2:231191642-231191651
28	POLR2A	chr2:231190591-231192687	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:231191150-231192381	GM12892	blood:	n/a	n/a
30	ZNF384	chr2:231191383-231192009	K562	blood:	n/a	n/a
31	UBTF	chr2:231191381-231192115	K562	blood:	n/a	n/a
32	NFIC	chr2:231191107-231192693	GM12878	blood:	n/a	chr2:231192522-231192538 chr2:231192522-231192539
33	MBD4	chr2:231191388-231192238	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:231191193-231191452	GM12878	blood:	n/a	n/a
35	FOXM1	chr2:231191270-231192554	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:231191187-231191468	GM12878	blood:	n/a	n/a
37	SRF	chr2:231191378-231192308	HCT-116	colon:	n/a	chr2:231191832-231191850
38	MTA3	chr2:231191252-231192746	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:231191367-231192262	U87	brain:	n/a	n/a
40	ELF1	chr2:231191382-231192635	HCT-116	colon:	n/a	chr2:231191642-231191651
41	PML	chr2:231191296-231192440	GM12878	blood:	n/a	n/a
42	ZEB1	chr2:231191387-231192351	HepG2	liver:	n/a	n/a
43	IRF1	chr2:231191363-231192121	K562	blood:	n/a	chr2:231192029-231192038 chr2:231191819-231191831 chr2:231191814-231191831 chr2:231191818-231191838 chr2:231191818-231191829 chr2:231191819-231191832 chr2:231191814-231191835 chr2:231191819-231191831 chr2:231191819-231191833 chr2:231191819-231191830 chr2:231191820-231191834 chr2:231191820-231191830
44	POLR2A	chr2:231191010-231191434	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:

Variant related genes	Relation type
SP140L	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv584667	chr2:231177822-231258450	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv460119	chr2:231178876-231258450	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv584668	chr2:231178876-231258450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1001929	chr2:231179884-231258603	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1006206	chr2:231179884-231268938	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv584669	chr2:231183321-231258150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv584670	chr2:231183786-231241276	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3374323	chr2:231186424-231244177	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231184800-231191400	Weak transcription	Right Atrium	heart
2	chr2:231187000-231191400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:231187800-231191400	Weak transcription	Thymus	Thymus
4	chr2:231188400-231191400	Weak transcription	A549	lung
5	chr2:231188600-231191400	Weak transcription	K562	blood
6	chr2:231189400-231191400	Weak transcription	Pancreas	Pancrea
7	chr2:231189400-231191400	Enhancers	Spleen	Spleen
8	chr2:231189800-231191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:231190000-231191800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:231190000-231194000	Flanking Active TSS	Dnd41	blood
11	chr2:231190200-231191400	Weak transcription	Right Ventricle	heart
12	chr2:231190200-231191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:231190200-231191400	Enhancers	Stomach Mucosa	stomach
14	chr2:231190400-231191400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:231190400-231191400	Weak transcription	Esophagus	oesophagus
16	chr2:231190400-231191400	Enhancers	Placenta	Placenta
17	chr2:231190400-231191400	Enhancers	Fetal Thymus	thymus
18	chr2:231190400-231191400	Weak transcription	Left Ventricle	heart
19	chr2:231190600-231191400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:231190600-231192400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:231191000-231191400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:231191000-231191400	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:231191000-231193400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:231191200-231191400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:231191200-231191400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:231191200-231191400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:231191200-231191400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:231191200-231191400	Active TSS	Primary T cells from cord blood	blood
29	chr2:231191200-231191400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:231191200-231191400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:231191200-231191400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:231191200-231191400	Enhancers	Adipose Nuclei	Adipose
33	chr2:231191200-231191400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:231191200-231191400	Enhancers	Fetal Intestine Large	intestine
35	chr2:231191200-231191400	Enhancers	Fetal Intestine Small	intestine
36	chr2:231191200-231191400	Enhancers	Fetal Muscle Leg	muscle
37	chr2:231191200-231191400	Enhancers	Fetal Stomach	stomach
38	chr2:231191200-231191400	Enhancers	Lung	lung
39	chr2:231191200-231191400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:231191200-231191400	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:231191200-231191400	Flanking Active TSS	HepG2	liver
42	chr2:231191200-231191400	Enhancers	HMEC	breast
43	chr2:231191200-231191400	Enhancers	HUVEC	blood vessel
44	chr2:231191200-231191400	Enhancers	NH-A	brain
45	chr2:231191200-231191600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:231191200-231191600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:231191200-231191600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:231191200-231191600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:231191200-231191600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:231191200-231191600	Flanking Active TSS	Liver	Liver

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