Variant report

Variant	rs10832730
Chromosome Location	chr11:17095131-17095132
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:17095052-17095201	K562	blood:	n/a	n/a
2	POLR2A	chr11:17094422-17096005	U87	brain:	n/a	n/a
3	POLR2A	chr11:17094552-17095875	K562	blood:	n/a	n/a
4	POLR2A	chr11:17094861-17095241	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:17093708-17100104	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:17095077-17095728	K562	blood:	n/a	n/a
7	POLR2A	chr11:17094515-17095925	GM12891	blood:	n/a	n/a
8	NFATC1	chr11:17094937-17095566	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:17094616-17096575	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:17094540-17095581	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:17093738-17102258	K562	blood:	n/a	n/a
12	POLR2A	chr11:17094588-17097949	K562	blood:	n/a	n/a
13	ZMIZ1	chr11:17094962-17095394	K562	blood:	n/a	n/a
14	POLR2A	chr11:17094321-17099956	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:17094667-17097558	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:17094602-17096669	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:17094800-17095708	HUVEC	blood vessel:	n/a	n/a
18	HEY1	chr11:17094991-17095514	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:17094558-17095612	GM12891	blood:	n/a	n/a
20	POLR2A	chr11:17093851-17100645	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:17094471-17095823	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:17094970-17095495	U87	brain:	n/a	n/a
23	POLR2A	chr11:17094631-17095600	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:17094515-17100328	GM12878	blood:	n/a	n/a
25	JUND	chr11:17094837-17095241	A549	lung:	n/a	n/a
26	POLR2A	chr11:17092359-17097808	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:17094484-17095663	K562	blood:	n/a	n/a
28	POLR2A	chr11:17094538-17095924	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:17095041-17095192	A549	lung:	n/a	n/a
30	POLR2A	chr11:17094568-17100192	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:17094537-17100702	K562	blood:	n/a	n/a
32	POLR2A	chr11:17092732-17100728	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:17094690-17100105	IMR90	lung:	n/a	n/a
34	POLR2A	chr11:17094811-17095158	A549	lung:	n/a	n/a
35	POLR2A	chr11:17094727-17095567	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:17093749-17095861	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:17095032-17095213	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:17095055-17095131	A549	lung:	n/a	n/a
39	POLR2A	chr11:17094536-17100574	H1-hESC	embryonic stem cell:	n/a	n/a
40	PML	chr11:17095101-17095662	K562	blood:	n/a	n/a
41	POLR2A	chr11:17094605-17095766	GM18505	blood:	n/a	n/a
42	POLR2A	chr11:17094554-17095911	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:17094981-17096744	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:17094601-17100190	K562	blood:	n/a	n/a
45	POLR2A	chr11:17094689-17095597	GM12891	blood:	n/a	n/a
46	POLR2A	chr11:17093711-17096861	PFSK-1	brain:	n/a	n/a
47	MTA3	chr11:17094565-17095917	GM12878	blood:	n/a	n/a
48	ATF2	chr11:17095051-17095808	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:17094401-17100379	GM12892	blood:	n/a	n/a
50	POLR2A	chr11:17094714-17095598	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:17094856..17097184-chr11:17228610..17231252,2	K562	blood:
2	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
3	chr11:17085165..17088143-chr11:17093678..17095207,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221322	TF binding region
ENSG00000070081	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10741723	0.86[ASN][1000 genomes]
rs10832753	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11024142	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024145	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024150	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11024152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024185	0.85[ASN][1000 genomes]
rs11024186	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11024190	0.84[ASN][1000 genomes]
rs11024201	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11529145	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11529605	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11529606	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11529608	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12225195	0.86[ASN][1000 genomes]
rs12576590	0.87[ASN][1000 genomes]
rs17847728	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302511	0.87[ASN][1000 genomes]
rs4757499	0.86[ASN][1000 genomes]
rs6416174	0.87[ASN][1000 genomes]
rs6486349	0.91[ASN][1000 genomes]
rs6486350	0.87[ASN][1000 genomes]
rs6486353	0.87[ASN][1000 genomes]
rs67771121	0.84[ASN][1000 genomes]
rs7113011	0.85[ASN][1000 genomes]
rs7122571	0.83[ASN][1000 genomes]
rs7123825	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7127204	0.91[ASN][1000 genomes]
rs72632985	0.81[ASN][1000 genomes]
rs72632986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72632987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72632988	0.85[ASN][1000 genomes]
rs72632989	0.84[ASN][1000 genomes]
rs72632990	0.84[ASN][1000 genomes]
rs7929047	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7934596	0.85[ASN][1000 genomes]
rs7941165	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945756	0.85[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	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17069400-17096200	Weak transcription	Pancreas	Pancrea
2	chr11:17084800-17095200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:17085400-17097200	Weak transcription	Right Ventricle	heart
4	chr11:17085400-17098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17087000-17095400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17087000-17098000	Weak transcription	Esophagus	oesophagus
7	chr11:17087400-17095200	Weak transcription	Fetal Lung	lung
8	chr11:17087800-17095200	Weak transcription	NHLF	lung
9	chr11:17088600-17095800	Weak transcription	Brain Angular Gyrus	brain
10	chr11:17088600-17096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:17088800-17095200	Weak transcription	Brain Anterior Caudate	brain
12	chr11:17088800-17095200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:17088800-17095200	Weak transcription	NHDF-Ad	bronchial
14	chr11:17089400-17097600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:17089800-17095200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:17091400-17095400	Weak transcription	HepG2	liver
17	chr11:17092200-17096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:17092200-17096400	Strong transcription	Fetal Brain Female	brain
19	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
21	chr11:17092400-17095800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:17092600-17095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:17092600-17096200	Strong transcription	Placenta	Placenta
24	chr11:17092800-17095200	Weak transcription	Hela-S3	cervix
25	chr11:17092800-17096400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:17092800-17097600	Weak transcription	Colonic Mucosa	Colon
27	chr11:17093200-17095200	Strong transcription	Fetal Intestine Small	intestine
28	chr11:17093400-17095200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:17093400-17095600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:17093400-17097200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:17093600-17095200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:17093600-17095200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:17093600-17095200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:17093600-17095200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:17093600-17095200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:17093600-17095200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:17093600-17095200	Weak transcription	Fetal Brain Male	brain
38	chr11:17093600-17095200	Weak transcription	Fetal Kidney	kidney
39	chr11:17093600-17095200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:17093600-17095200	Weak transcription	HSMMtube	muscle
41	chr11:17093600-17095200	Weak transcription	K562	blood
42	chr11:17093600-17096200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:17093600-17096200	Weak transcription	Gastric	stomach
44	chr11:17093600-17096400	Strong transcription	Fetal Muscle Leg	muscle
45	chr11:17093600-17097200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:17093600-17097200	Strong transcription	Fetal Stomach	stomach
47	chr11:17093800-17095200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:17093800-17095200	Strong transcription	A549	lung
49	chr11:17093800-17095400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:17093800-17095400	Weak transcription	Psoas Muscle	Psoas

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