Variant report

Variant	rs191251401
Chromosome Location	chr2:234475381-234475382
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:403)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:234475310-234475515	GM12878	blood:	n/a	n/a
2	SIX5	chr2:234474976-234475643	A549	lung:	n/a	chr2:234475500-234475509
3	YY1	chr2:234475076-234475595	K562	blood:	n/a	n/a
4	CHD2	chr2:234475093-234475547	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:234474767-234475603	GM12878	blood:	n/a	n/a
6	TAF1	chr2:234475032-234475619	K562	blood:	n/a	n/a
7	SP1	chr2:234474627-234475749	A549	lung:	n/a	chr2:234474804-234474818 chr2:234474797-234474811 chr2:234474823-234474832
8	POLR2A	chr2:234474254-234475647	HepG2	liver:	n/a	n/a
9	CHD1	chr2:234474588-234475413	GM12878	blood:	n/a	n/a
10	ATF3	chr2:234475068-234475632	A549	lung:	n/a	n/a
11	YY1	chr2:234474673-234475678	SK-N-SH	brain:	n/a	n/a
12	KAP1	chr2:234474925-234475604	HEK293	kidney:	n/a	n/a
13	POLR2A	chr2:234474713-234475674	GM12878	blood:	n/a	n/a
14	GATA3	chr2:234474740-234475728	A549	lung:	n/a	n/a
15	POLR2A	chr2:234474959-234475546	HepG2	liver:	n/a	n/a
16	RELA	chr2:234474867-234475599	GM19099	blood:	n/a	n/a
17	TAF1	chr2:234475053-234475652	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr2:234474632-234475690	GM12892	blood:	n/a	n/a
19	MAX	chr2:234475037-234475576	HepG2	liver:	n/a	n/a
20	YY1	chr2:234474886-234475614	K562	blood:	n/a	n/a
21	SRF	chr2:234475163-234475673	ECC-1	luminal epithelium:	n/a	chr2:234475475-234475485 chr2:234475243-234475253
22	POLR2A	chr2:234474447-234475627	IMR90	lung:	n/a	n/a
23	ELF1	chr2:234475170-234475631	HepG2	liver:	n/a	n/a
24	MTA3	chr2:234474700-234475664	GM12878	blood:	n/a	n/a
25	FOXA1	chr2:234475110-234475641	HepG2	liver:	n/a	n/a
26	MAX	chr2:234475038-234475672	ECC-1	luminal epithelium:	n/a	n/a
27	TBL1XR1	chr2:234474870-234475589	GM12878	blood:	n/a	n/a
28	MYC	chr2:234475272-234475518	HepG2	liver:	n/a	n/a
29	POLR2A	chr2:234474509-234475727	GM19193	blood:	n/a	n/a
30	ELK1	chr2:234475310-234475510	K562	blood:	n/a	n/a
31	TAF1	chr2:234474976-234475636	H1-neurons	neurons:	n/a	n/a
32	CREB1	chr2:234475333-234475540	A549	lung:	n/a	n/a
33	MAX	chr2:234474992-234475730	ECC-1	luminal epithelium:	n/a	n/a
34	SIN3AK20	chr2:234475164-234475533	A549	lung:	n/a	n/a
35	ZNF384	chr2:234475225-234475440	K562	blood:	n/a	n/a
36	REST	chr2:234475105-234475531	HepG2	liver:	n/a	n/a
37	IRF1	chr2:234475278-234475667	K562	blood:	n/a	n/a
38	ELF1	chr2:234474985-234475602	HepG2	liver:	n/a	n/a
39	MBD4	chr2:234474805-234475537	HepG2	liver:	n/a	n/a
40	HEY1	chr2:234474806-234475548	HepG2	liver:	n/a	chr2:234475308-234475323 chr2:234475462-234475477 chr2:234475464-234475479
41	YY1	chr2:234474947-234475624	NT2-D1	testis:	n/a	n/a
42	POLR2A	chr2:234474911-234475636	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr2:234474624-234475742	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:234474769-234475654	ECC-1	luminal epithelium:	n/a	n/a
45	TCF12	chr2:234475046-234475751	ECC-1	luminal epithelium:	n/a	n/a
46	YY1	chr2:234475206-234475601	K562	blood:	n/a	n/a
47	SRF	chr2:234475006-234475611	MCF-7	breast:	n/a	chr2:234475475-234475485 chr2:234475243-234475253
48	POLR2A	chr2:234474997-234475647	H1-neurons	neurons:	n/a	n/a
49	TAF7	chr2:234475014-234475557	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:234474394-234475654	HCT-116	colon:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
2	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
3	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
4	chr2:234400872..234402381-chr2:234473582..234476254,2	MCF-7	breast:
5	chr2:234475015..234475516-chr20:34205146..34205692,2	NB4	blood:
6	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
7	chr2:234389092..234391362-chr2:234473035..234476486,3	MCF-7	breast:
8	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:

No data

Variant related genes	Relation type
USP40	TF binding region
ENSG00000085982	Chromatin interaction
ENSG00000061656	Chromatin interaction
ENSG00000240224	Chromatin interaction
ENSG00000167165	Chromatin interaction
ENSG00000123485	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv3354779	chr2:234474774-234478122	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3388163	chr2:234474849-234477847	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3514380	chr2:234475056-234477535	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234474000-234475600	Active TSS	Fetal Brain Male	brain
2	chr2:234474000-234475800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:234474000-234475800	Active TSS	Right Atrium	heart
4	chr2:234474000-234475800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:234474200-234475400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:234474200-234475600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:234474200-234475600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:234474200-234475800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:234474200-234475800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:234474200-234475800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:234474200-234475800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:234474200-234475800	Active TSS	Fetal Intestine Small	intestine
13	chr2:234474200-234475800	Active TSS	Psoas Muscle	Psoas
14	chr2:234474200-234475800	Active TSS	Thymus	Thymus
15	chr2:234474400-234475400	Active TSS	Aorta	Aorta
16	chr2:234474400-234475400	Active TSS	Liver	Liver
17	chr2:234474400-234475400	Active TSS	Fetal Heart	heart
18	chr2:234474400-234475600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:234474400-234475600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:234474400-234475600	Active TSS	Colon Smooth Muscle	Colon
21	chr2:234474400-234475600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:234474400-234475600	Active TSS	Lung	lung
23	chr2:234474400-234475600	Active TSS	Ovary	ovary
24	chr2:234474400-234475600	Active TSS	Placenta Amnion	Placenta Amnion
25	chr2:234474400-234475600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr2:234474400-234475600	Active TSS	GM12878-XiMat	blood
27	chr2:234474400-234475600	Active TSS	HSMMtube	muscle
28	chr2:234474400-234475800	Active TSS	H1 Cell Line	embryonic stem cell
29	chr2:234474400-234475800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr2:234474400-234475800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:234474400-234475800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:234474400-234475800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:234474400-234475800	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:234474400-234475800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:234474400-234475800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:234474400-234475800	Active TSS	Colonic Mucosa	Colon
37	chr2:234474400-234475800	Active TSS	Fetal Intestine Large	intestine
38	chr2:234474400-234475800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:234474400-234475800	Active TSS	Fetal Muscle Trunk	muscle
40	chr2:234474400-234475800	Active TSS	Fetal Muscle Leg	muscle
41	chr2:234474400-234475800	Active TSS	Fetal Stomach	stomach
42	chr2:234474400-234475800	Active TSS	Rectal Smooth Muscle	rectum
43	chr2:234474400-234475800	Active TSS	Right Ventricle	heart
44	chr2:234474400-234475800	Active TSS	HSMM	muscle
45	chr2:234474400-234475800	Active TSS	K562	blood
46	chr2:234474600-234475400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:234474600-234475400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:234474600-234475400	Active TSS	Placenta	Placenta
49	chr2:234474600-234475600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:234474600-234475600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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