Variant report

Variant	rs547173112
Chromosome Location	chr2:96012237-96012238
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	POLR2A	chr2:96011915-96012242	HUVEC	blood vessel:	n/a	n/a
2	BHLHE40	chr2:96012014-96012349	K562	blood:	n/a	chr2:96012036-96012052 chr2:96012314-96012330
3	CCNT2	chr2:96011206-96012770	K562	blood:	n/a	chr2:96012075-96012084
4	MAX	chr2:96012007-96012264	K562	blood:	n/a	chr2:96012047-96012057
5	RCOR1	chr2:96010737-96012375	IMR90	lung:	n/a	n/a
6	ZBTB7A	chr2:96011125-96012379	ECC-1	luminal epithelium:	n/a	chr2:96011148-96011156
7	POLR2A	chr2:96012009-96012328	PANC-1	pancreas:	n/a	n/a
8	ZBTB7A	chr2:96011243-96012365	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr2:96011323-96012323	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr2:96011099-96012889	MCF-7	breast:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
11	FOXP2	chr2:96012030-96012337	PFSK-1	brain:	n/a	n/a
12	MAZ	chr2:96011104-96012811	IMR90	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
13	MAZ	chr2:96011094-96012333	Hela-S3	cervix:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
14	E2F4	chr2:96011323-96012266	K562	blood:	n/a	chr2:96011933-96011940 chr2:96011673-96011682 chr2:96012038-96012048 chr2:96011720-96011730 chr2:96011933-96011940 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96012041-96012051 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011933-96011940 chr2:96011443-96011452
15	CREB1	chr2:96012060-96012349	A549	lung:	n/a	n/a
16	RCOR1	chr2:96011222-96012276	K562	blood:	n/a	n/a
17	POLR2A	chr2:96011941-96012387	A549	lung:	n/a	n/a
18	MAX	chr2:96011005-96012353	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
19	E2F6	chr2:96011943-96012284	K562	blood:	n/a	chr2:96012038-96012048 chr2:96012041-96012051
20	NFIC	chr2:96011832-96012373	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr2:96012024-96012263	K562	blood:	n/a	chr2:96012038-96012052 chr2:96012073-96012084 chr2:96012043-96012052 chr2:96012115-96012129 chr2:96012041-96012055
22	MYC	chr2:96011748-96012246	K562	blood:	n/a	chr2:96012047-96012057
23	POLR2A	chr2:96011331-96012314	K562	blood:	n/a	n/a
24	UBTF	chr2:96011272-96012625	K562	blood:	n/a	n/a
25	TCF7L2	chr2:96011106-96012282	HCT-116	colon:	n/a	chr2:96011880-96011887
26	HMGN3	chr2:96011049-96013137	K562	blood:	n/a	n/a
27	POLR2A	chr2:96011232-96012292	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr2:96011919-96012318	ProgFib	skin:	n/a	n/a
29	MYC	chr2:96011204-96012295	K562	blood:	n/a	chr2:96012047-96012057
30	MAX	chr2:96010932-96012931	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
31	POLR2A	chr2:96012018-96012345	A549	lung:	n/a	n/a
32	MAX	chr2:96011230-96012324	K562	blood:	n/a	chr2:96012047-96012057
33	ZBTB7A	chr2:96011305-96012310	K562	blood:	n/a	n/a
34	E2F6	chr2:96011270-96012709	K562	blood:	n/a	chr2:96011933-96011940 chr2:96011673-96011682 chr2:96012038-96012048 chr2:96011720-96011730 chr2:96011569-96011580 chr2:96011933-96011940 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96012041-96012051 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011933-96011940 chr2:96011443-96011452
35	POLR2A	chr2:96011957-96012321	HCT-116	colon:	n/a	n/a
36	MAX	chr2:96011139-96012989	ECC-1	luminal epithelium:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
37	YY1	chr2:96012070-96012331	HCT-116	colon:	n/a	chr2:96012073-96012084 chr2:96012115-96012129
38	SMARCB1	chr2:96011112-96012252	Hela-S3	cervix:	n/a	n/a
39	NFYB	chr2:96012150-96012408	K562	blood:	n/a	chr2:96012276-96012290 chr2:96012276-96012291 chr2:96012276-96012291
40	NFIC	chr2:96011048-96012489	ECC-1	luminal epithelium:	n/a	n/a
41	HDAC2	chr2:96011949-96012237	K562	blood:	n/a	n/a
42	POLR2A	chr2:96012007-96012266	PFSK-1	brain:	n/a	n/a
43	EGR1	chr2:96011976-96012239	K562	blood:	n/a	chr2:96012044-96012057 chr2:96012044-96012054 chr2:96012045-96012055 chr2:96012044-96012057 chr2:96012043-96012058 chr2:96012122-96012132
44	YY1	chr2:96011961-96012312	K562	blood:	n/a	chr2:96012038-96012052 chr2:96012073-96012084 chr2:96012043-96012052 chr2:96012115-96012129 chr2:96012041-96012055
45	E2F6	chr2:96011318-96012305	K562	blood:	n/a	chr2:96011933-96011940 chr2:96011673-96011682 chr2:96012038-96012048 chr2:96011720-96011730 chr2:96011569-96011580 chr2:96011933-96011940 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96012041-96012051 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011933-96011940 chr2:96011443-96011452
46	POLR2A	chr2:96011970-96012334	HCT-116	colon:	n/a	n/a
47	EGR1	chr2:96011919-96012269	K562	blood:	n/a	chr2:96012044-96012057 chr2:96012044-96012054 chr2:96012045-96012055 chr2:96012044-96012057 chr2:96012043-96012058 chr2:96012122-96012132
48	MYC	chr2:96011275-96012306	K562	blood:	n/a	chr2:96012047-96012057
49	ETS1	chr2:96012056-96012284	K562	blood:	n/a	chr2:96012060-96012073
50	MAZ	chr2:96011227-96012386	K562	blood:	n/a	chr2:96012047-96012057

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
2	chr18:12883923..12884448-chr2:96011969..96012489,2	Hela-S3	cervix:

Variant related genes	Relation type
KCNIP3	TF binding region
ENSG00000175354	Chromatin interaction
ENSG00000155066	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	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh 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
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking 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	10 gene(s)	inside rSNPs	diseases
15	nsv582496	chr2:95999856-96020029	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv829578	chr2:96010192-96015186	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3321815	chr2:96010750-96013598	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3437070	chr2:96011450-96013998	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3504135	chr2:96011525-96013598	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3504136	chr2:96011525-96013598	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv829579	chr2:96011563-96014374	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:96011000-96012800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:96011000-96012800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:96011000-96012800	Active TSS	Brain Anterior Caudate	brain
5	chr2:96011000-96012800	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:96011000-96013000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:96011000-96013000	Active TSS	Aorta	Aorta
8	chr2:96011000-96013200	Active TSS	HSMM	muscle
9	chr2:96011200-96012600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:96011200-96012800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:96011200-96012800	Active TSS	Gastric	stomach
12	chr2:96011200-96012800	Active TSS	NHDF-Ad	bronchial
13	chr2:96011200-96013000	Bivalent/Poised TSS	Thymus	Thymus
14	chr2:96011200-96013000	Active TSS	NHLF	lung
15	chr2:96011200-96013200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr2:96011200-96013200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:96011200-96013200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr2:96011200-96013400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:96011400-96012600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:96011400-96012600	Active TSS	Psoas Muscle	Psoas
21	chr2:96011400-96012600	Active TSS	Spleen	Spleen
22	chr2:96011400-96012600	Active TSS	HUVEC	blood vessel
23	chr2:96011400-96012800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr2:96011400-96012800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:96011400-96012800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:96011400-96012800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:96011400-96012800	Active TSS	Esophagus	oesophagus
28	chr2:96011400-96012800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:96011400-96012800	Active TSS	Ovary	ovary
30	chr2:96011400-96012800	Active TSS	A549	lung
31	chr2:96011400-96013000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:96011400-96013000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:96011400-96013000	Active TSS	Brain Angular Gyrus	brain
34	chr2:96011400-96013000	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:96011400-96013000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr2:96011400-96013000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr2:96011400-96013200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:96011400-96013200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr2:96011400-96013200	Active TSS	Left Ventricle	heart
40	chr2:96011400-96013200	Active TSS	Right Atrium	heart
41	chr2:96011600-96012800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:96011600-96012800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr2:96011800-96012400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:96011800-96012400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:96011800-96012400	Active TSS	Hela-S3	cervix
46	chr2:96011800-96012400	Bivalent/Poised TSS	HepG2	liver
47	chr2:96011800-96012600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:96011800-96012600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:96011800-96012600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:96011800-96012600	Active TSS	Colonic Mucosa	Colon

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