Variant report

Variant	rs11024185
Chromosome Location	chr11:17210548-17210549
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:17210403-17210561	ProgFib	skin:	n/a	n/a
2	RAD21	chr11:17210290-17210598	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:17210410-17210550	GM12878	blood:	n/a	n/a
4	CTCF	chr11:17210368-17210559	K562	blood:	n/a	n/a
5	CTCF	chr11:17210400-17210550	BJ	skin:	n/a	n/a
6	RAD21	chr11:17210312-17210625	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr11:17210264-17210661	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:17210480-17210630	GM12871	blood:	n/a	n/a
9	CTCF	chr11:17210400-17210550	HCPEpiC	choroid plexus:	n/a	n/a
10	TEAD4	chr11:17210240-17210642	H1-hESC	embryonic stem cell:	n/a	n/a
11	TEAD4	chr11:17210222-17210681	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:17210400-17210550	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr11:17210500-17210650	HCM	heart:	n/a	n/a
14	CTCF	chr11:17210313-17210629	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr11:17210180-17210614	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:17209348..17211957-chr11:17213326..17215244,2	K562	blood:
2	chr11:17200195..17203044-chr11:17207705..17210741,3	K562	blood:
3	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213779	TF binding region
ENSG00000213779	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10430892	1.00[EUR][1000 genomes]
rs10741723	0.99[ASN][1000 genomes]
rs10832730	0.85[ASN][1000 genomes]
rs11024142	0.85[ASN][1000 genomes]
rs11024145	0.85[ASN][1000 genomes]
rs11024146	0.86[ASN][1000 genomes]
rs11024147	0.86[ASN][1000 genomes]
rs11024150	0.88[ASN][1000 genomes]
rs11024152	0.86[ASN][1000 genomes]
rs11024153	0.88[ASN][1000 genomes]
rs11024186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024197	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11024199	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024226	1.00[EUR][1000 genomes]
rs11024243	1.00[EUR][1000 genomes]
rs11024245	1.00[EUR][1000 genomes]
rs11024246	1.00[EUR][1000 genomes]
rs12225195	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12226898	0.81[ASN][1000 genomes]
rs12576590	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17847728	0.87[ASN][1000 genomes]
rs2302511	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757499	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61555995	1.00[EUR][1000 genomes]
rs6416174	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486349	0.85[ASN][1000 genomes]
rs6486350	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486353	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67771121	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7113011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122571	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123825	0.86[ASN][1000 genomes]
rs7127204	0.94[ASN][1000 genomes]
rs72632986	0.86[ASN][1000 genomes]
rs72632987	0.86[ASN][1000 genomes]
rs72632988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72632989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72632990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7929047	0.91[ASN][1000 genomes]
rs7934596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941165	0.87[ASN][1000 genomes]
rs7945756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv553569	chr11:17201219-17211182	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv553570	chr11:17203765-17210885	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3453719	chr11:17207776-17212474	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3492050	chr11:17208176-17212624	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3492054	chr11:17208676-17212324	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3453708	chr11:17208901-17211749	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3365176	chr11:17209077-17211341	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv3453742	chr11:17209261-17211448	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv3492053	chr11:17209266-17211065	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3478374	chr11:17209510-17211324	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv3478385	chr11:17209510-17211324	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv3495316	chr11:17209523-17211323	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv3447647	chr11:17209548-17211312	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	esv3492052	chr11:17209554-17211297	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	esv3453686	chr11:17209573-17211314	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	esv3403913	chr11:17209582-17211262	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	esv3453731	chr11:17209678-17211288	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	esv3453697	chr11:17209736-17211225	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	esv3495315	chr11:17209744-17211229	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
24	esv3453753	chr11:17209753-17211220	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	esv3492055	chr11:17209753-17211220	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
26	esv3495317	chr11:17209753-17211220	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
27	esv14430	chr11:17209938-17211296	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
28	nsv553572	chr11:17209962-17210548	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
29	nsv553573	chr11:17209962-17210661	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
30	nsv553574	chr11:17209962-17210723	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
31	nsv553575	chr11:17209962-17210885	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
32	nsv553576	chr11:17209962-17211182	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
33	nsv553577	chr11:17210067-17210885	Enhancers Genic enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
34	nsv553578	chr11:17210128-17210885	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
35	nsv553579	chr11:17210180-17210885	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
36	nsv553580	chr11:17210233-17210885	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
37	nsv553581	chr11:17210233-17211182	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
2	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
6	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
7	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
8	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
9	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
11	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
14	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
15	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:17191200-17213000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:17191200-17213000	Weak transcription	Dnd41	blood
21	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:17191400-17212800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:17191400-17213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:17191600-17212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:17191800-17212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:17191800-17212800	Weak transcription	Fetal Kidney	kidney
28	chr11:17192000-17214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:17192400-17214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:17192400-17217800	Weak transcription	Stomach Mucosa	stomach
31	chr11:17193200-17212400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:17193800-17213000	Weak transcription	NH-A	brain
33	chr11:17194000-17212400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:17194000-17212400	Weak transcription	Hela-S3	cervix
35	chr11:17194000-17212600	Weak transcription	Placenta	Placenta
36	chr11:17194000-17212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:17194000-17212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:17194000-17212800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:17194000-17212800	Weak transcription	Ovary	ovary
40	chr11:17194000-17212800	Weak transcription	Right Atrium	heart
41	chr11:17194000-17212800	Weak transcription	Osteobl	bone
42	chr11:17194000-17215400	Weak transcription	A549	lung
43	chr11:17194200-17214400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:17194200-17228000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:17195200-17213000	Weak transcription	Adipose Nuclei	Adipose
46	chr11:17195600-17212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:17197000-17215600	Weak transcription	Brain Germinal Matrix	brain
48	chr11:17197600-17228000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:17198600-17214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:17199000-17212800	Weak transcription	NHEK	skin

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