Variant report

Variant	rs11731262
Chromosome Location	chr4:174251422-174251423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:174249406-174252478	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:174250385-174252283	K562	blood:	n/a	n/a
3	POLR2A	chr4:174249504-174252391	K562	blood:	n/a	n/a
4	POLR2A	chr4:174250991-174252320	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:174250145-174252461	HL-60	blood:	n/a	n/a
6	POLR2A	chr4:174250388-174252515	K562	blood:	n/a	n/a
7	POLR2A	chr4:174250869-174252458	K562	blood:	n/a	n/a
8	POLR2A	chr4:174250285-174252264	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:174250299-174252485	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr4:174246542-174252396	GM12878	blood:	n/a	n/a
11	PML	chr4:174250839-174252285	K562	blood:	n/a	n/a
12	POLR2A	chr4:174241673-174256923	K562	blood:	n/a	n/a
13	POLR2A	chr4:174250199-174252345	A549	lung:	n/a	n/a
14	TRIM28	chr4:174251349-174252232	K562	blood:	n/a	n/a
15	POLR2A	chr4:174251364-174252455	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:174246161-174252347	U87	brain:	n/a	n/a
17	POLR2A	chr4:174251261-174252372	K562	blood:	n/a	n/a
18	POLR2A	chr4:174249376-174252379	K562	blood:	n/a	n/a
19	POLR2A	chr4:174249452-174252354	PBDE	blood:	n/a	n/a
20	POLR2A	chr4:174251322-174252413	MCF-7	breast:	n/a	n/a
21	POLR2A	chr4:174250949-174252474	K562	blood:	n/a	n/a
22	POLR2A	chr4:174251268-174251492	SK-N-SH	brain:	n/a	n/a
23	TBL1XR1	chr4:174250807-174251441	K562	blood:	n/a	n/a
24	POLR2A	chr4:174251349-174252478	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:174251030-174252275	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr4:174251004-174251648	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:174250149-174252276	U87	brain:	n/a	n/a
28	POLR2A	chr4:174250547-174251507	HCT-116	colon:	n/a	n/a
29	POLR2A	chr4:174244305-174252141	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr4:174250405-174252316	HepG2	liver:	n/a	n/a
31	CREB1	chr4:174251083-174251972	K562	blood:	n/a	n/a
32	POLR2A	chr4:174250094-174252304	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr4:174250516-174252437	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr4:174250449-174252415	GM12891	blood:	n/a	n/a
35	ZMIZ1	chr4:174251056-174251515	K562	blood:	n/a	n/a
36	POLR2A	chr4:174251340-174252495	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:174250131-174252376	K562	blood:	n/a	n/a
38	POLR2A	chr4:174249334-174252276	U87	brain:	n/a	n/a
39	POLR2A	chr4:174249454-174252452	K562	blood:	n/a	n/a
40	BCLAF1	chr4:174251234-174252045	K562	blood:	n/a	n/a
41	POLR2A	chr4:174249401-174252304	K562	blood:	n/a	n/a
42	POLR2A	chr4:174250970-174252240	ECC-1	luminal epithelium:	n/a	n/a
43	PML	chr4:174251368-174252286	K562	blood:	n/a	n/a
44	BCL3	chr4:174251350-174252196	K562	blood:	n/a	n/a
45	POLR2A	chr4:174250197-174252422	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr4:174250443-174252425	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:174246167-174252274	U87	brain:	n/a	n/a
48	POLR2A	chr4:174249241-174252395	GM12891	blood:	n/a	n/a
49	POLR2A	chr4:174250344-174252221	GM19099	blood:	n/a	n/a
50	POLR2A	chr4:174247884-174252401	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174251329..174253900-chr4:174300222..174303986,3	K562	blood:
2	chr4:174250771..174257645-chr4:174286907..174294441,15	MCF-7	breast:
3	chr4:174245727..174260507-chr4:174283013..174295498,65	K562	blood:
4	chr4:174249343..174251576-chr4:174340147..174342867,2	MCF-7	breast:
5	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248774	TF binding region
ENSG00000272870	Chromatin interaction
ENSG00000242882	Chromatin interaction
ENSG00000164105	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10471199	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs10520255	0.83[JPT][hapmap]
rs11132982	0.89[ASN][1000 genomes]
rs11721513	1.00[CEU][hapmap]
rs11722602	0.86[EUR][1000 genomes]
rs11722807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11724459	1.00[EUR][1000 genomes]
rs11726679	0.99[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11728029	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11729778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13151627	0.83[JPT][hapmap]
rs1481120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17059272	1.00[MEX][hapmap];0.92[YRI][hapmap]
rs34885736	1.00[EUR][1000 genomes]
rs3733476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775590	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775591	0.88[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs4695829	0.88[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs56159092	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58185783	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58612091	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61470087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6821844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822924	0.83[JPT][hapmap]
rs6828429	1.00[CEU][hapmap]
rs6833097	0.86[YRI][hapmap]
rs6842693	0.88[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs6853427	0.90[ASN][1000 genomes]
rs72999543	0.83[ASN][1000 genomes]
rs73001512	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73003342	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73003349	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003362	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73003376	0.98[ASN][1000 genomes]
rs73005346	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005353	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005357	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005359	0.81[AFR][1000 genomes]
rs73005363	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7664847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7668435	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7672055	0.88[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs7682997	0.81[AFR][1000 genomes]
rs7686909	0.88[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7689758	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4610	chr4:174217026-174252627	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv966552	chr4:174248506-174259305	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174210400-174253000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:174210400-174253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:174210600-174253000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:174210800-174252000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:174215200-174254000	Weak transcription	Psoas Muscle	Psoas
6	chr4:174217600-174253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:174222800-174253000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:174223400-174251600	Strong transcription	Fetal Thymus	thymus
9	chr4:174229200-174252400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:174229200-174253200	Weak transcription	Small Intestine	intestine
11	chr4:174231200-174254000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:174235600-174253000	Weak transcription	Fetal Brain Female	brain
13	chr4:174235600-174253200	Weak transcription	Colonic Mucosa	Colon
14	chr4:174236000-174253800	Weak transcription	Right Ventricle	heart
15	chr4:174236400-174253200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:174237400-174254200	Weak transcription	Ovary	ovary
17	chr4:174237600-174253200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:174237600-174254000	Weak transcription	Esophagus	oesophagus
19	chr4:174237600-174254400	Weak transcription	Pancreas	Pancrea
20	chr4:174237800-174253200	Weak transcription	Gastric	stomach
21	chr4:174238200-174253200	Weak transcription	Aorta	Aorta
22	chr4:174238400-174253000	Weak transcription	Fetal Intestine Small	intestine
23	chr4:174238400-174254400	Weak transcription	Lung	lung
24	chr4:174240000-174251800	Weak transcription	Brain Germinal Matrix	brain
25	chr4:174240400-174253800	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:174240600-174251600	Weak transcription	Brain Anterior Caudate	brain
27	chr4:174240600-174251800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:174240600-174253200	Weak transcription	Stomach Mucosa	stomach
29	chr4:174240600-174253600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:174240800-174253400	Weak transcription	Brain Angular Gyrus	brain
31	chr4:174241000-174253000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:174241000-174253400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:174241200-174253200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:174241200-174254000	Weak transcription	HSMMtube	muscle
35	chr4:174242600-174253200	Weak transcription	Fetal Brain Male	brain
36	chr4:174243800-174251800	Weak transcription	NHEK	skin
37	chr4:174244000-174254000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:174244000-174254000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:174244200-174251600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:174245200-174253000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr4:174245600-174253000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:174245800-174254400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:174246000-174252600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:174246000-174253200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:174246400-174251800	Strong transcription	HUVEC	blood vessel
46	chr4:174246400-174252200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:174246400-174252600	Weak transcription	Primary B cells from cord blood	blood
48	chr4:174246400-174252800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:174246400-174253200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:174247000-174253000	Weak transcription	Primary T cells from cord blood	blood

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