Variant report

Variant	rs62173695
Chromosome Location	chr2:178122727-178122728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:178122256-178122837	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:178116790-178124433	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:178121297-178122791	GM12878	blood:	n/a	n/a
4	CBX3	chr2:178122506-178123214	K562	blood:	n/a	n/a
5	POLR2A	chr2:178122245-178122767	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:178120879-178123272	HepG2	liver:	n/a	n/a
7	CBX3	chr2:178121955-178123634	K562	blood:	n/a	n/a
8	POLR2A	chr2:178122067-178122733	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:178121311-178123308	K562	blood:	n/a	n/a
10	POLR2A	chr2:178121165-178122893	Hela-S3	cervix:	n/a	n/a
11	KAP1	chr2:178122366-178123085	HEK293	kidney:	n/a	n/a
12	HEY1	chr2:178122406-178122761	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:178121301-178122770	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:178120886-178123782	K562	blood:	n/a	n/a
15	WRNIP1	chr2:178122530-178122737	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:178122212-178122844	K562	blood:	n/a	n/a
17	POLR2A	chr2:178122202-178122842	K562	blood:	n/a	n/a
18	POLR2A	chr2:178118560-178123274	A549	lung:	n/a	n/a
19	RCOR1	chr2:178122675-178123264	IMR90	lung:	n/a	n/a
20	POLR2A	chr2:178122277-178122780	GM12892	blood:	n/a	n/a
21	SETDB1	chr2:178122266-178123180	U2OS	brain:	n/a	n/a
22	POLR2A	chr2:178121340-178122812	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:178122242-178122770	GM12892	blood:	n/a	n/a
24	POLR2A	chr2:178120664-178123302	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:178121311-178122892	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178121343..178124034-chr2:178622244..178624898,2	K562	blood:
2	chr2:178027758..178037377-chr2:178117808..178124193,11	K562	blood:
3	chr2:178025635..178032947-chr2:178118593..178131370,24	K562	blood:
4	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:
5	chr2:178076417..178080648-chr2:178122342..178126721,4	MCF-7	breast:
6	chr2:178120960..178123424-chr2:178188023..178191497,3	K562	blood:

No data

Variant related genes	Relation type
MIR3128	TF binding region
ENSG00000236501	Chromatin interaction
ENSG00000225808	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000116044	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10183914	0.83[EUR][1000 genomes]
rs13001694	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13005431	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13028464	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17524059	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17581525	0.91[EUR][1000 genomes]
rs17647588	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1806649	0.93[ASN][1000 genomes]
rs34468415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34551701	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35284526	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35440573	0.89[EUR][1000 genomes]
rs36030784	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178107200-178126000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:178107800-178123000	Enhancers	Psoas Muscle	Psoas
3	chr2:178113400-178126600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:178114600-178125800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:178114600-178126000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:178114800-178123200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:178114800-178123400	Enhancers	Stomach Mucosa	stomach
8	chr2:178115000-178123600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:178116400-178122800	Enhancers	Fetal Intestine Large	intestine
10	chr2:178117200-178122800	Enhancers	Fetal Heart	heart
11	chr2:178117800-178124800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:178118200-178123200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:178119400-178126000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:178119400-178127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:178119800-178125000	Enhancers	Colon Smooth Muscle	Colon
16	chr2:178119800-178126200	Genic enhancers	Dnd41	blood
17	chr2:178120000-178122800	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:178120000-178122800	Enhancers	HMEC	breast
19	chr2:178120000-178126400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:178120200-178122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:178120200-178122800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:178120200-178122800	Enhancers	Brain Substantia Nigra	brain
23	chr2:178120200-178124800	Weak transcription	HSMMtube	muscle
24	chr2:178120400-178122800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:178120400-178123600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:178120400-178125000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:178120600-178122800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:178120600-178124800	Weak transcription	NH-A	brain
29	chr2:178120800-178122800	Flanking Active TSS	HepG2	liver
30	chr2:178121000-178122800	Enhancers	Thymus	Thymus
31	chr2:178121000-178123000	Weak transcription	Fetal Kidney	kidney
32	chr2:178121200-178122800	Enhancers	Aorta	Aorta
33	chr2:178121200-178122800	Enhancers	Gastric	stomach
34	chr2:178121200-178122800	Enhancers	Left Ventricle	heart
35	chr2:178121200-178123000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:178121200-178123000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:178121200-178126000	Weak transcription	HSMM	muscle
38	chr2:178121400-178122800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr2:178121400-178122800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:178121400-178122800	Enhancers	Fetal Thymus	thymus
41	chr2:178121400-178123000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:178121600-178123200	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:178121600-178124200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:178121600-178125000	Weak transcription	Primary B cells from cord blood	blood
45	chr2:178121800-178122800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:178121800-178122800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:178121800-178122800	Weak transcription	GM12878-XiMat	blood
48	chr2:178121800-178123000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:178121800-178123000	Enhancers	Liver	Liver
50	chr2:178121800-178123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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