Variant report

Variant	rs150151167
Chromosome Location	chr2:234475058-234475059
allele	-/TCGAGTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr2:234474976-234475643	A549	lung:	n/a	chr2:234475500-234475509
2	POLR2A	chr2:234474767-234475603	GM12878	blood:	n/a	n/a
3	TAF1	chr2:234475032-234475619	K562	blood:	n/a	n/a
4	SP1	chr2:234474627-234475749	A549	lung:	n/a	chr2:234474804-234474818 chr2:234474797-234474811 chr2:234474823-234474832
5	POLR2A	chr2:234474254-234475647	HepG2	liver:	n/a	n/a
6	CHD1	chr2:234474588-234475413	GM12878	blood:	n/a	n/a
7	YY1	chr2:234474673-234475678	SK-N-SH	brain:	n/a	n/a
8	KAP1	chr2:234474925-234475604	HEK293	kidney:	n/a	n/a
9	POLR2A	chr2:234474713-234475674	GM12878	blood:	n/a	n/a
10	GATA3	chr2:234474740-234475728	A549	lung:	n/a	n/a
11	POLR2A	chr2:234474959-234475546	HepG2	liver:	n/a	n/a
12	RELA	chr2:234474867-234475599	GM19099	blood:	n/a	n/a
13	TAF1	chr2:234475053-234475652	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr2:234474632-234475690	GM12892	blood:	n/a	n/a
15	MAX	chr2:234475037-234475576	HepG2	liver:	n/a	n/a
16	YY1	chr2:234474886-234475614	K562	blood:	n/a	n/a
17	POLR2A	chr2:234474447-234475627	IMR90	lung:	n/a	n/a
18	MTA3	chr2:234474700-234475664	GM12878	blood:	n/a	n/a
19	MAX	chr2:234475038-234475672	ECC-1	luminal epithelium:	n/a	n/a
20	TBL1XR1	chr2:234474870-234475589	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:234474509-234475727	GM19193	blood:	n/a	n/a
22	TAF1	chr2:234474976-234475636	H1-neurons	neurons:	n/a	n/a
23	MAX	chr2:234474992-234475730	ECC-1	luminal epithelium:	n/a	n/a
24	ELF1	chr2:234474985-234475602	HepG2	liver:	n/a	n/a
25	MBD4	chr2:234474805-234475537	HepG2	liver:	n/a	n/a
26	HEY1	chr2:234474806-234475548	HepG2	liver:	n/a	chr2:234475308-234475323 chr2:234475462-234475477 chr2:234475464-234475479
27	YY1	chr2:234474947-234475624	NT2-D1	testis:	n/a	n/a
28	POLR2A	chr2:234474911-234475636	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr2:234474624-234475742	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:234474769-234475654	ECC-1	luminal epithelium:	n/a	n/a
31	TCF12	chr2:234475046-234475751	ECC-1	luminal epithelium:	n/a	n/a
32	SRF	chr2:234475006-234475611	MCF-7	breast:	n/a	chr2:234475475-234475485 chr2:234475243-234475253
33	POLR2A	chr2:234474997-234475647	H1-neurons	neurons:	n/a	n/a
34	TAF7	chr2:234475014-234475557	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:234474394-234475654	HCT-116	colon:	n/a	n/a
36	POLR2A	chr2:234474708-234475673	GM12878	blood:	n/a	n/a
37	MBD4	chr2:234474801-234475667	HepG2	liver:	n/a	n/a
38	YY1	chr2:234475033-234475654	ECC-1	luminal epithelium:	n/a	n/a
39	ARID3A	chr2:234475017-234475641	HepG2	liver:	n/a	n/a
40	UBTF	chr2:234475042-234475578	K562	blood:	n/a	n/a
41	POLR2A	chr2:234474373-234475708	U87	brain:	n/a	n/a
42	POLR2A	chr2:234474722-234475722	K562	blood:	n/a	n/a
43	ZMIZ1	chr2:234475021-234475590	K562	blood:	n/a	n/a
44	ZNF384	chr2:234474278-234475218	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:234474746-234475705	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:234474697-234475638	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:234474718-234475632	K562	blood:	n/a	n/a
48	SIN3AK20	chr2:234474852-234475702	MCF-7	breast:	n/a	n/a
49	YY1	chr2:234475005-234475626	HCT-116	colon:	n/a	n/a
50	CHD2	chr2:234474405-234475666	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234452682..234455147-chr2:234473464..234475374,2	MCF-7	breast:
2	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
3	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
4	chr2:234474046..234476375-chr2:234618981..234621894,3	MCF-7	breast:
5	chr2:234400872..234402381-chr2:234473582..234476254,2	MCF-7	breast:
6	chr2:234475015..234475516-chr20:34205146..34205692,2	NB4	blood:
7	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
8	chr2:234389092..234391362-chr2:234473035..234476486,3	MCF-7	breast:
9	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:

No data

Variant related genes	Relation type
USP40	TF binding region
ENSG00000167165	Chromatin interaction
ENSG00000061656	Chromatin interaction
ENSG00000271639	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000240224	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	chr2:234474200-234475200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:234474200-234475400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:234474200-234475600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234474200-234475600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:234474200-234475800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:234474200-234475800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:234474200-234475800	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:234474200-234475800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:234474200-234475800	Active TSS	Fetal Intestine Small	intestine
14	chr2:234474200-234475800	Active TSS	Psoas Muscle	Psoas
15	chr2:234474200-234475800	Active TSS	Thymus	Thymus
16	chr2:234474400-234475200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:234474400-234475400	Active TSS	Aorta	Aorta
18	chr2:234474400-234475400	Active TSS	Liver	Liver
19	chr2:234474400-234475400	Active TSS	Fetal Heart	heart
20	chr2:234474400-234475600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:234474400-234475600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:234474400-234475600	Active TSS	Colon Smooth Muscle	Colon
23	chr2:234474400-234475600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:234474400-234475600	Active TSS	Lung	lung
25	chr2:234474400-234475600	Active TSS	Ovary	ovary
26	chr2:234474400-234475600	Active TSS	Placenta Amnion	Placenta Amnion
27	chr2:234474400-234475600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr2:234474400-234475600	Active TSS	GM12878-XiMat	blood
29	chr2:234474400-234475600	Active TSS	HSMMtube	muscle
30	chr2:234474400-234475800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:234474400-234475800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:234474400-234475800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:234474400-234475800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:234474400-234475800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:234474400-234475800	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:234474400-234475800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:234474400-234475800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:234474400-234475800	Active TSS	Colonic Mucosa	Colon
39	chr2:234474400-234475800	Active TSS	Fetal Intestine Large	intestine
40	chr2:234474400-234475800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:234474400-234475800	Active TSS	Fetal Muscle Trunk	muscle
42	chr2:234474400-234475800	Active TSS	Fetal Muscle Leg	muscle
43	chr2:234474400-234475800	Active TSS	Fetal Stomach	stomach
44	chr2:234474400-234475800	Active TSS	Rectal Smooth Muscle	rectum
45	chr2:234474400-234475800	Active TSS	Right Ventricle	heart
46	chr2:234474400-234475800	Active TSS	HSMM	muscle
47	chr2:234474400-234475800	Active TSS	K562	blood
48	chr2:234474600-234475400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:234474600-234475400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:234474600-234475400	Active TSS	Placenta	Placenta

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