Variant report

Variant	rs7952771
Chromosome Location	chr12:49520330-49520331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49519512-49521891	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:49520220-49520385	A549	lung:	n/a	n/a
3	POLR2A	chr12:49520241-49520404	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:49519904-49522443	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:49520218-49520387	GM12878	blood:	n/a	n/a
6	FOXM1	chr12:49520326-49521407	GM12878	blood:	n/a	n/a
7	STAT5A	chr12:49520323-49521651	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:49520005-49522430	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:49520248-49522528	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:49520170-49522430	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr12:49520190-49520661	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:49520324-49521925	K562	blood:	n/a	n/a
13	POLR2A	chr12:49519438-49525993	GM12892	blood:	n/a	n/a
14	ELF1	chr12:49520323-49520678	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:49520225-49520386	GM12878	blood:	n/a	n/a
16	HEY1	chr12:49520325-49525632	K562	blood:	n/a	chr12:49525016-49525031 chr12:49523999-49524014 chr12:49525182-49525197
17	POLR2A	chr12:49520242-49523256	U87	brain:	n/a	n/a
18	POLR2A	chr12:49520250-49521840	HL-60	blood:	n/a	n/a
19	NFIC	chr12:49520324-49521579	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:49520234-49520370	A549	lung:	n/a	n/a
21	POLR2A	chr12:49520249-49522458	K562	blood:	n/a	n/a
22	POLR2A	chr12:49520274-49521540	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:49520272-49521929	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:49519160-49525710	U87	brain:	n/a	n/a
25	BCLAF1	chr12:49520152-49521523	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:49519204-49521940	U87	brain:	n/a	n/a
27	BCL3	chr12:49520272-49521616	A549	lung:	n/a	n/a
28	POLR2A	chr12:49520183-49521893	K562	blood:	n/a	n/a
29	MTA3	chr12:49520223-49521839	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:49520053-49521919	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:49520138-49521812	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr12:49519189-49525680	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:49520104-49525589	GM12892	blood:	n/a	n/a
34	POLR2A	chr12:49520159-49525725	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr12:49519868-49525630	GM12891	blood:	n/a	n/a
36	POLR2A	chr12:49519435-49525804	GM12892	blood:	n/a	n/a
37	POLR2A	chr12:49520206-49520392	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFATC1	chr12:49520324-49521703	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:49520227-49521826	HL-60	blood:	n/a	n/a
40	POLR2A	chr12:49520071-49525613	GM12891	blood:	n/a	n/a
41	POLR2A	chr12:49520197-49520399	A549	lung:	n/a	n/a
42	POLR2A	chr12:49519967-49525822	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr12:49520133-49521933	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr12:49520178-49520690	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr12:49519561-49525623	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr12:49520172-49521906	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr12:49519548-49525666	GM12892	blood:	n/a	n/a
48	JUND	chr12:49520310-49521522	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr12:49520195-49525833	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:49519414-49525811	SK-N-MC	brain:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
2	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
3	chr12:49520168..49522237-chr12:49581015..49583384,2	K562	blood:
4	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
5	chr12:49514986..49517722-chr12:49518841..49521074,3	MCF-7	breast:
6	chr12:49514836..49519049-chr12:49519208..49521265,5	MCF-7	breast:
7	chr12:49519269..49521394-chr12:49569620..49571332,2	K562	blood:
8	chr12:49503635..49505566-chr12:49518562..49521421,3	MCF-7	breast:
9	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
10	chr12:49454519..49456146-chr12:49518450..49520745,2	MCF-7	breast:
11	chr12:49481723..49485881-chr12:49518387..49522804,4	MCF-7	breast:
12	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
13	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:
14	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
15	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
16	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
17	chr12:49457477..49459224-chr12:49518339..49520842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258017	TF binding region
ENSG00000167548	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000139636	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11168871	1.00[EUR][1000 genomes]
rs6580700	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49505400-49521000	Weak transcription	Spleen	Spleen
2	chr12:49511400-49520600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:49511600-49520800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49511600-49521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:49513600-49520800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:49515000-49520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:49515000-49520600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:49515000-49520800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:49515000-49520800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:49515000-49520800	Weak transcription	Adipose Nuclei	Adipose
11	chr12:49515000-49520800	Weak transcription	Colonic Mucosa	Colon
12	chr12:49515000-49520800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:49515000-49520800	Weak transcription	Fetal Kidney	kidney
14	chr12:49515000-49520800	Weak transcription	Left Ventricle	heart
15	chr12:49515000-49520800	Weak transcription	Pancreas	Pancrea
16	chr12:49515000-49520800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:49515000-49520800	Weak transcription	HSMM	muscle
18	chr12:49515000-49520800	Weak transcription	HUVEC	blood vessel
19	chr12:49515000-49520800	Weak transcription	K562	blood
20	chr12:49515000-49520800	Weak transcription	NHLF	lung
21	chr12:49515000-49521000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:49515000-49521000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:49515000-49521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:49515000-49521200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:49515000-49521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:49515000-49521200	Weak transcription	Liver	Liver
27	chr12:49515000-49521600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:49515000-49522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:49515000-49522800	Weak transcription	Stomach Mucosa	stomach
30	chr12:49515200-49520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:49515200-49520800	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:49515200-49521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:49515200-49521000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:49515200-49521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:49515200-49521000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:49515200-49521000	Weak transcription	HepG2	liver
37	chr12:49515200-49522800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:49515400-49520600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:49515400-49520800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:49515400-49520800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:49515400-49520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:49515400-49520800	Weak transcription	Brain Anterior Caudate	brain
43	chr12:49515400-49520800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:49515400-49520800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:49515400-49520800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:49515400-49520800	Weak transcription	A549	lung
47	chr12:49515400-49520800	Weak transcription	NHDF-Ad	bronchial
48	chr12:49515400-49520800	Weak transcription	Osteobl	bone
49	chr12:49515400-49521200	Weak transcription	Hela-S3	cervix
50	chr12:49516600-49520600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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