Variant report

Variant	rs546235803
Chromosome Location	chr2:231191457-231191458
allele	C/T
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	GABPA	chr2:231191456-231192353	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:231191367-231192268	U87	brain:	n/a	n/a
3	YY1	chr2:231191387-231192086	GM12878	blood:	n/a	chr2:231191513-231191522
4	E2F4	chr2:231191421-231191517	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:231190979-231192385	GM12878	blood:	n/a	n/a
6	GABPA	chr2:231191441-231192416	SK-N-SH	brain:	n/a	n/a
7	SRF	chr2:231191435-231192335	HCT-116	colon:	n/a	chr2:231191832-231191850
8	POLR2A	chr2:231190069-231192265	GM12892	blood:	n/a	n/a
9	JUN	chr2:231191149-231192517	K562	blood:	n/a	chr2:231191860-231191872 chr2:231192171-231192180 chr2:231191862-231191870
10	POLR2A	chr2:231191444-231192388	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr2:231191356-231192186	HCT-116	colon:	n/a	n/a
12	POLR2A	chr2:231190699-231192353	GM12878	blood:	n/a	n/a
13	MAX	chr2:231191288-231191575	K562	blood:	n/a	n/a
14	STAT5A	chr2:231191336-231192231	GM12878	blood:	n/a	chr2:231191881-231191888 chr2:231191819-231191830
15	POLR2A	chr2:231190827-231192324	GM12892	blood:	n/a	n/a
16	MBD4	chr2:231191450-231192186	HepG2	liver:	n/a	n/a
17	MAX	chr2:231191393-231192559	HepG2	liver:	n/a	n/a
18	MTA3	chr2:231191347-231192338	GM12878	blood:	n/a	n/a
19	MXI1	chr2:231191431-231192121	HepG2	liver:	n/a	n/a
20	MAX	chr2:231191429-231192200	HepG2	liver:	n/a	n/a
21	ELF1	chr2:231191390-231192360	GM12878	blood:	n/a	chr2:231191642-231191651
22	CEBPB	chr2:231191437-231191997	HepG2	liver:	n/a	n/a
23	E2F6	chr2:231191364-231191561	K562	blood:	n/a	n/a
24	TEAD4	chr2:231191359-231192191	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:231191407-231192111	HCT-116	colon:	n/a	n/a
26	POLR2A	chr2:231191347-231192496	GM12891	blood:	n/a	n/a
27	HEY1	chr2:231191449-231192228	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:231191419-231191718	HepG2	liver:	n/a	n/a
29	ZNF384	chr2:231191452-231191820	GM12878	blood:	n/a	n/a
30	ELF1	chr2:231191384-231192130	HepG2	liver:	n/a	chr2:231191642-231191651
31	CEBPB	chr2:231191349-231192572	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:231191334-231192598	K562	blood:	n/a	n/a
33	POU2F2	chr2:231191219-231192109	GM12891	blood:	n/a	n/a
34	ATF2	chr2:231191449-231192490	GM12878	blood:	n/a	n/a
35	ELF1	chr2:231191424-231191973	K562	blood:	n/a	chr2:231191642-231191651
36	POLR2A	chr2:231191253-231192424	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:231190632-231192210	GM12892	blood:	n/a	n/a
38	MXI1	chr2:231191218-231192414	IMR90	lung:	n/a	n/a
39	ELF1	chr2:231191446-231192107	SK-N-SH	brain:	n/a	chr2:231191642-231191651
40	ELF1	chr2:231191373-231192057	GM12878	blood:	n/a	chr2:231191642-231191651
41	MYBL2	chr2:231191370-231192147	HepG2	liver:	n/a	n/a
42	MYBL2	chr2:231191423-231192219	HepG2	liver:	n/a	n/a
43	ELF1	chr2:231191385-231192084	HepG2	liver:	n/a	chr2:231191642-231191651
44	GABPA	chr2:231191394-231192314	HL-60	blood:	n/a	n/a
45	POLR2A	chr2:231190591-231192687	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:231191150-231192381	GM12892	blood:	n/a	n/a
47	ZNF384	chr2:231191383-231192009	K562	blood:	n/a	n/a
48	CEBPD	chr2:231191442-231192125	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:231191432-231192192	PFSK-1	brain:	n/a	n/a
50	UBTF	chr2:231191381-231192115	K562	blood:	n/a	n/a

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	chr2:231191200-231191600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:231191200-231191600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr2:231191200-231191600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:231191200-231191600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:231191200-231191600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:231191200-231191600	Flanking Active TSS	Liver	Liver
11	chr2:231191200-231191800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:231191200-231191800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr2:231191200-231191800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr2:231191200-231191800	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:231191200-231191800	Flanking Active TSS	HSMM	muscle
16	chr2:231191200-231191800	Flanking Active TSS	Osteobl	bone
17	chr2:231191200-231192000	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr2:231191200-231192000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr2:231191200-231192000	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:231191200-231192200	Active TSS	Colon Smooth Muscle	Colon
21	chr2:231191200-231192400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:231191200-231192400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:231191200-231192600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr2:231191200-231192600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:231191200-231192600	Flanking Active TSS	Hela-S3	cervix
26	chr2:231191200-231192600	Active TSS	NHDF-Ad	bronchial
27	chr2:231191200-231192800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr2:231191200-231192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:231191200-231192800	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:231191200-231192800	Flanking Active TSS	NHEK	skin
31	chr2:231191200-231193400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:231191200-231193600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:231191200-231193600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:231191200-231194000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr2:231191200-231194600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:231191400-231191600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:231191400-231191600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:231191400-231191600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:231191400-231191600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr2:231191400-231191600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:231191400-231191600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:231191400-231191600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:231191400-231191600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:231191400-231191600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:231191400-231191600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:231191400-231191600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr2:231191400-231191600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr2:231191400-231191600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:231191400-231191600	Flanking Active TSS	Lung	lung
50	chr2:231191400-231191600	Flanking Active TSS	Right Atrium	heart

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