Variant report

Variant	rs11235736
Chromosome Location	chr11:73111617-73111618
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73111064-73111931	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:73102033-73111863	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:73111549-73112008	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:73111176-73111830	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:73111270-73111691	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:73111286-73111710	Hela-S3	cervix:	n/a	n/a
7	NFATC1	chr11:73111368-73111777	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73111252-73111847	K562	blood:	n/a	n/a
9	POLR2A	chr11:73111228-73115333	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:73111286-73111677	H1-neurons	neurons:	n/a	n/a
12	ZNF263	chr11:73111389-73111745	HEK293-T-REx	kidney:	n/a	n/a
13	POLR2A	chr11:73111129-73111787	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:73111285-73111980	A549	lung:	n/a	n/a
15	POLR2A	chr11:73111300-73111670	K562	blood:	n/a	n/a
16	POLR2A	chr11:73111160-73111833	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:73111168-73111854	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:73108392-73111835	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:73111147-73111776	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:73111564-73111701	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:73111226-73115898	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:73111252-73111730	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:73111154-73111771	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:73111083-73111638	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:73111423-73111661	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:73103383-73111849	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:73108632-73111915	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr11:73111278-73111662	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:73111288-73111701	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:73111126-73111819	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:73111134-73111888	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73109121..73112181-chr11:73112375..73115305,3	MCF-7	breast:
2	chr11:73106551..73108996-chr11:73110299..73113242,3	K562	blood:
3	chr11:73099755..73102272-chr11:73109128..73112969,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256448	TF binding region
ENSG00000256928	TF binding region
ENSG00000256928	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10898921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235772	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235783	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235784	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235789	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235791	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235792	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235802	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235803	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235816	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12417351	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12417890	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12417977	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12418558	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12420228	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12421012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17132126	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17244589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1808095	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1939383	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34493385	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55885773	0.89[EUR][1000 genomes]
rs56277844	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56375530	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56394842	0.97[EUR][1000 genomes]
rs57225667	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60203229	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61018857	0.95[EUR][1000 genomes];0.89[ASN][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	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73095200-73116200	Weak transcription	Liver	Liver
2	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
8	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
14	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
15	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:73100800-73115800	Weak transcription	HMEC	breast
19	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:73101000-73116400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
22	chr11:73101400-73112600	Weak transcription	HSMMtube	muscle
23	chr11:73103600-73118400	Weak transcription	Esophagus	oesophagus
24	chr11:73103800-73116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:73104000-73116200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:73104600-73112600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:73104600-73113200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:73104600-73113200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:73104600-73114400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:73104600-73123400	Strong transcription	Fetal Stomach	stomach
31	chr11:73104800-73112800	Weak transcription	Brain Germinal Matrix	brain
32	chr11:73104800-73114000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:73104800-73122600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:73105200-73116400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:73105200-73116800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:73105600-73116000	Weak transcription	Colonic Mucosa	Colon
37	chr11:73105800-73116600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:73106000-73114600	Weak transcription	HepG2	liver
39	chr11:73106200-73116400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:73106400-73113400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:73106400-73116600	Weak transcription	Gastric	stomach
42	chr11:73106400-73120200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:73106600-73112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:73107000-73113800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:73107200-73114800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:73107200-73116200	Weak transcription	Lung	lung
47	chr11:73107800-73114000	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:73107800-73115800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:73107800-73116200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:73107800-73117600	Weak transcription	Rectal Mucosa Donor 31	rectum

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