Variant report

Variant	rs11571461
Chromosome Location	chr12:1026319-1026320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1025434-1026540	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:1026288-1026504	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:1026092-1026564	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:1026173-1026648	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:1025488-1026370	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:1026141-1026498	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:1026246-1026619	GM12891	blood:	n/a	n/a
8	POLR2A	chr12:1026088-1026542	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:1025345-1026543	A549	lung:	n/a	n/a
10	POLR2A	chr12:1026289-1026479	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1026288-1026338	LNCaP	prostate:	n/a
2	chr12:1026288-1026338	HEEpiC	esophagus:	n/a
3	chr12:1026288-1026338	Caco-2	colon:	n/a
4	chr12:1026288-1026338	NT2-D1	testis:	n/a
5	chr12:1026288-1026338	GM12892	blood:	n/a
6	chr12:1026288-1026338	CMK	blood:	n/a
7	chr12:1026288-1026338	HIPEpiC	eye:	n/a
8	chr12:1026288-1026338	U87	brain:	n/a
9	chr12:1026288-1026338	HCPEpiC	choroid plexus:	n/a
10	chr12:1026288-1026338	HCF	heart:	n/a
11	chr12:1026288-1026338	BE2_C	brain:	n/a
12	chr12:1026288-1026338	GM12891	blood:	n/a
13	chr12:1026288-1026338	K562	blood:	n/a
14	chr12:1026288-1026338	HAEpiC	amniotic membrane:	n/a
15	chr12:1026288-1026338	HRPEpiC	eye:	n/a
16	chr12:1026288-1026338	PFSK-1	brain:	n/a
17	chr12:1026288-1026338	PANC-1	pancreas:	n/a
18	chr12:1026288-1026338	MCF-7	breast:	n/a
19	chr12:1026288-1026338	HEK293	kidney:	embryo
20	chr12:1026288-1026338	Hela-S3	cervix:	n/a
21	chr12:1026288-1026338	SK-N-SH	brain:	n/a
22	chr12:1026288-1026338	H1-hESC	embryonic stem cell:	embryo
23	chr12:1026288-1026338	NHBE	bronchial:	n/a
24	chr12:1026288-1026338	HUVEC	blood vessel:	n/a
25	chr12:1026288-1026338	NH-A	brain:	n/a
26	chr12:1026288-1026338	SK-N-MC	brain:	n/a
27	chr12:1026288-1026338	ovcar-3	ovarian:	n/a
28	chr12:1026288-1026338	GM19239	blood:	n/a
29	chr12:1026288-1026338	AoSMC	blood vessel:	n/a
30	chr12:1026288-1026338	PrEC	prostate:	n/a
31	chr12:1026288-1026338	GM12878	blood:	n/a
32	chr12:1026288-1026338	HRCEpiC	kidney:	n/a
33	chr12:1026288-1026338	BJ	skin:	n/a
34	chr12:1026288-1026338	GM06990	blood:	n/a
35	chr12:1026288-1026338	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:1026288-1026338	HNPCEpiC	eye:	n/a
37	chr12:1026288-1026338	SKMC	muscle:	n/a
38	chr12:1026288-1026338	HMEC	breast:	n/a
39	chr12:1026288-1026338	A549	lung:	n/a
40	chr12:1026288-1026338	AG09309	skin:	n/a
41	chr12:1026288-1026338	SK-N-SH_RA	brain:	n/a
42	chr12:1026288-1026338	AG04449	skin:	fetal
43	chr12:1026288-1026338	AG04450	lung:	fetal
44	chr12:1026288-1026338	RPTEC	kidney:	n/a
45	chr12:1026288-1026338	SAEC	small airway:	n/a
46	chr12:1026288-1026338	ProgFib	skin:	n/a
47	chr12:1026288-1026338	Jurkat	blood:	n/a
48	chr12:1026288-1026338	T-47D	breast:	n/a
49	chr12:1026288-1026338	HL-60	blood:	n/a
50	chr12:1026288-1026338	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1022033..1023631-chr12:1025919..1029696,3	K562	blood:

No data

Variant related genes	Relation type
RAD52	TF binding region
RAD52	CpG island
ENSG00000002016	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11571370	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11571435	1.00[CEU][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11571439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11571446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11571453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11571468	1.00[CEU][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314329	0.90[CEU][hapmap]
rs56291311	1.00[EUR][1000 genomes]
rs72648639	0.84[AFR][1000 genomes]
rs72650711	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72650739	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72650748	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
9	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1042333	chr12:907975-1081509	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
15	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv1053198	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
20	nsv541341	chr12:993822-1034603	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv1041675	chr12:993822-1091354	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
22	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv492321	chr12:1011692-1388512	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
25	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:964600-1027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:965800-1028400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:982200-1027000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:986800-1028400	Strong transcription	Placenta	Placenta
7	chr12:987000-1028400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:987000-1028800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
10	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:989400-1028400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:1001800-1028200	Strong transcription	HepG2	liver
14	chr12:1003600-1028000	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:1003600-1028200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:1003600-1028400	Strong transcription	NHDF-Ad	bronchial
17	chr12:1004200-1027200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:1004400-1041200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:1004800-1037400	Strong transcription	Fetal Lung	lung
20	chr12:1005000-1028000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:1005200-1028800	Strong transcription	Rectal Smooth Muscle	rectum
22	chr12:1006000-1026400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:1006600-1028200	Strong transcription	HSMMtube	muscle
24	chr12:1007000-1028400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:1008000-1028000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:1008200-1026600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:1008200-1028800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:1009400-1026600	Strong transcription	Brain Germinal Matrix	brain
29	chr12:1009400-1027200	Strong transcription	Colonic Mucosa	Colon
30	chr12:1013400-1026600	Strong transcription	Liver	Liver
31	chr12:1014200-1026600	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr12:1014600-1028200	Strong transcription	Primary T cells from cord blood	blood
33	chr12:1015200-1028000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr12:1015200-1028200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:1015200-1028400	Strong transcription	GM12878-XiMat	blood
36	chr12:1015200-1029200	Strong transcription	Brain Anterior Caudate	brain
37	chr12:1015200-1038800	Weak transcription	Fetal Brain Male	brain
38	chr12:1015400-1028400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:1015600-1030800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:1015800-1028600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:1016400-1026600	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr12:1019200-1028200	Strong transcription	A549	lung
43	chr12:1019800-1026400	Strong transcription	Hela-S3	cervix
44	chr12:1020800-1054600	Strong transcription	Fetal Intestine Small	intestine
45	chr12:1021200-1026600	Strong transcription	Gastric	stomach
46	chr12:1021200-1028200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:1021400-1026600	Strong transcription	Left Ventricle	heart
48	chr12:1021600-1033800	Weak transcription	Fetal Heart	heart
49	chr12:1021800-1028600	Strong transcription	Lung	lung
50	chr12:1022000-1027200	Strong transcription	NHLF	lung

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