Variant report

Variant	rs569102659
Chromosome Location	chr2:231191640-231191641
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	TAF1	chr2:231191587-231192085	HepG2	liver:	n/a	n/a
2	MAFK	chr2:231191573-231192019	Hela-S3	cervix:	n/a	n/a
3	TBP	chr2:231191489-231192395	HepG2	liver:	n/a	n/a
4	GABPA	chr2:231191535-231192141	K562	blood:	n/a	n/a
5	STAT2	chr2:231191605-231192059	K562	blood:	n/a	chr2:231191822-231191837 chr2:231191881-231191888 chr2:231191819-231191830
6	CEBPB	chr2:231191465-231192046	HepG2	liver:	n/a	n/a
7	YY1	chr2:231191583-231192117	GM12892	blood:	n/a	n/a
8	HEY1	chr2:231191527-231192106	HepG2	liver:	n/a	n/a
9	FOSL2	chr2:231191492-231192076	HepG2	liver:	n/a	chr2:231191859-231191870 chr2:231191860-231191872 chr2:231191862-231191870
10	NR2C2	chr2:231191623-231192142	HepG2	liver:	n/a	n/a
11	ELK1	chr2:231191628-231192151	Hela-S3	cervix:	n/a	n/a
12	BATF	chr2:231191613-231192080	GM12878	blood:	n/a	chr2:231191862-231191873
13	POLR2A	chr2:231191551-231192096	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:231191609-231192191	HL-60	blood:	n/a	n/a
15	REST	chr2:231191465-231192127	HepG2	liver:	n/a	chr2:231191680-231191694 chr2:231191674-231191694
16	FOS	chr2:231191555-231192129	HUVEC	blood vessel:	n/a	chr2:231191860-231191872 chr2:231191862-231191870 chr2:231191860-231191871
17	JUND	chr2:231191554-231192211	SK-N-SH	brain:	n/a	chr2:231191860-231191872 chr2:231192171-231192180 chr2:231191862-231191870 chr2:231191860-231191871
18	GABPA	chr2:231191456-231192353	SK-N-SH	brain:	n/a	n/a
19	SPI1	chr2:231191478-231192031	GM12878	blood:	n/a	chr2:231191497-231191510
20	MYC	chr2:231191630-231192359	NB4	blood:	n/a	n/a
21	POLR2A	chr2:231191504-231192353	PBDE	blood:	n/a	n/a
22	POLR2A	chr2:231191367-231192268	U87	brain:	n/a	n/a
23	POLR2A	chr2:231191603-231192257	Hela-S3	cervix:	n/a	n/a
24	YY1	chr2:231191387-231192086	GM12878	blood:	n/a	chr2:231191513-231191522
25	POLR2A	chr2:231190979-231192385	GM12878	blood:	n/a	n/a
26	MAZ	chr2:231191554-231192090	K562	blood:	n/a	n/a
27	CEBPB	chr2:231191464-231191951	IMR90	lung:	n/a	n/a
28	GABPA	chr2:231191441-231192416	SK-N-SH	brain:	n/a	n/a
29	MAX	chr2:231191621-231192205	A549	lung:	n/a	n/a
30	CHD1	chr2:231191480-231192063	GM12878	blood:	n/a	n/a
31	HCFC1	chr2:231191461-231192635	Hela-S3	cervix:	n/a	n/a
32	SRF	chr2:231191435-231192335	HCT-116	colon:	n/a	chr2:231191832-231191850
33	POLR2A	chr2:231191557-231192116	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr2:231191577-231192081	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:231191546-231192154	GM18526	blood:	n/a	n/a
36	GABPA	chr2:231191565-231192053	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:231191582-231192109	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr2:231190069-231192265	GM12892	blood:	n/a	n/a
39	RCOR1	chr2:231191623-231192213	K562	blood:	n/a	n/a
40	MXI1	chr2:231191582-231192592	GM12878	blood:	n/a	n/a
41	MAX	chr2:231191548-231192564	HCT-116	colon:	n/a	n/a
42	JUN	chr2:231191149-231192517	K562	blood:	n/a	chr2:231191860-231191872 chr2:231192171-231192180 chr2:231191862-231191870
43	POLR2A	chr2:231191444-231192388	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr2:231191356-231192186	HCT-116	colon:	n/a	n/a
45	POLR2A	chr2:231191541-231192342	GM18505	blood:	n/a	n/a
46	NFIC	chr2:231191563-231192099	HepG2	liver:	n/a	n/a
47	MXI1	chr2:231191616-231192078	Hela-S3	cervix:	n/a	n/a
48	TBP	chr2:231191599-231192150	Hela-S3	cervix:	n/a	n/a
49	PAX5	chr2:231191605-231192089	GM12878	blood:	n/a	chr2:231191821-231191830 chr2:231192028-231192037
50	SRF	chr2:231191555-231192045	MCF-7	breast:	n/a	chr2:231191832-231191850

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231191400..231192273-chr2:231280039..231281003,2	MCF-7	breast:
2	chr2:231183815..231186331-chr2:231189683..231191890,3	MCF-7	breast:

Variant related genes	Relation type
SP140L	TF binding region
ENSG00000067066	Chromatin interaction

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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231190000-231191800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:231190000-231194000	Flanking Active TSS	Dnd41	blood
3	chr2:231190600-231192400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:231191000-231193400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:231191200-231191800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr2:231191200-231191800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr2:231191200-231191800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:231191200-231191800	Flanking Active TSS	GM12878-XiMat	blood
9	chr2:231191200-231191800	Flanking Active TSS	HSMM	muscle
10	chr2:231191200-231191800	Flanking Active TSS	Osteobl	bone
11	chr2:231191200-231192000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr2:231191200-231192000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:231191200-231192000	Active TSS	Stomach Smooth Muscle	stomach
14	chr2:231191200-231192200	Active TSS	Colon Smooth Muscle	Colon
15	chr2:231191200-231192400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr2:231191200-231192400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:231191200-231192600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:231191200-231192600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:231191200-231192600	Flanking Active TSS	Hela-S3	cervix
20	chr2:231191200-231192600	Active TSS	NHDF-Ad	bronchial
21	chr2:231191200-231192800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr2:231191200-231192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:231191200-231192800	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:231191200-231192800	Flanking Active TSS	NHEK	skin
25	chr2:231191200-231193400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:231191200-231193600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:231191200-231193600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:231191200-231194000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr2:231191200-231194600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:231191400-231191800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:231191400-231191800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:231191400-231191800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:231191400-231191800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:231191400-231191800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:231191400-231191800	Active TSS	Brain Substantia Nigra	brain
36	chr2:231191400-231191800	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr2:231191400-231191800	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr2:231191400-231191800	Flanking Active TSS	Fetal Stomach	stomach
39	chr2:231191400-231191800	Enhancers	Gastric	stomach
40	chr2:231191400-231191800	Flanking Active TSS	Thymus	Thymus
41	chr2:231191400-231191800	Flanking Active TSS	A549	lung
42	chr2:231191400-231191800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:231191400-231192000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:231191400-231192000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:231191400-231192000	Active TSS	Colonic Mucosa	Colon
46	chr2:231191400-231192000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr2:231191400-231192000	Flanking Active TSS	Left Ventricle	heart
48	chr2:231191400-231192000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:231191400-231192200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:231191400-231192200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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