Variant report

Variant	rs72931705
Chromosome Location	chr3:101295984-101295985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:101295097-101296010	GM12892	blood:	n/a	n/a
2	POLR2A	chr3:101295182-101296025	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:101295122-101295994	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101294680..101296540-chr3:101306521..101308762,3	MCF-7	breast:
2	chr3:101293308..101296113-chr3:101394030..101397396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242299	TF binding region
ENSG00000066422	Chromatin interaction
ENSG00000256628	Chromatin interaction
ENSG00000081154	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs56757596	1.00[AMR][1000 genomes]
rs56871732	1.00[AMR][1000 genomes]
rs57288874	1.00[AMR][1000 genomes]
rs57768297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060577	1.00[AMR][1000 genomes]
rs59092914	1.00[AMR][1000 genomes]
rs59212280	1.00[AMR][1000 genomes]
rs59610252	1.00[AMR][1000 genomes]
rs59761426	1.00[AMR][1000 genomes]
rs59790563	1.00[AMR][1000 genomes]
rs60451587	1.00[AMR][1000 genomes]
rs60491518	1.00[AMR][1000 genomes]
rs61302621	1.00[AMR][1000 genomes]
rs61468230	1.00[AMR][1000 genomes]
rs61473551	1.00[AMR][1000 genomes]
rs72931709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931711	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931789	1.00[AMR][1000 genomes]
rs72933808	1.00[AMR][1000 genomes]
rs72933810	1.00[AMR][1000 genomes]
rs72933821	1.00[AMR][1000 genomes]
rs72933838	1.00[AMR][1000 genomes]
rs72935816	1.00[AMR][1000 genomes]
rs72935835	1.00[AMR][1000 genomes]
rs72935839	1.00[AMR][1000 genomes]
rs72935846	1.00[AMR][1000 genomes]
rs72935852	1.00[AMR][1000 genomes]
rs72935865	1.00[AMR][1000 genomes]
rs72935871	1.00[AMR][1000 genomes]
rs72935875	1.00[AMR][1000 genomes]
rs72935894	1.00[AMR][1000 genomes]
rs72937635	1.00[AMR][1000 genomes]
rs72937638	1.00[AMR][1000 genomes]
rs72937639	1.00[AMR][1000 genomes]
rs72937642	1.00[AMR][1000 genomes]
rs72937646	1.00[AMR][1000 genomes]
rs72937653	1.00[AMR][1000 genomes]
rs72937664	1.00[AMR][1000 genomes]
rs72937667	1.00[AMR][1000 genomes]
rs72937684	1.00[AMR][1000 genomes]
rs72937810	1.00[AMR][1000 genomes]
rs72937817	1.00[AMR][1000 genomes]
rs72940339	1.00[AMR][1000 genomes]
rs72940344	1.00[AMR][1000 genomes]
rs72940361	1.00[AMR][1000 genomes]
rs72940364	1.00[AMR][1000 genomes]
rs72940372	1.00[AMR][1000 genomes]
rs72940374	1.00[AMR][1000 genomes]
rs72940386	1.00[AMR][1000 genomes]
rs72942217	1.00[AMR][1000 genomes]
rs72942240	1.00[AMR][1000 genomes]
rs72942243	1.00[AMR][1000 genomes]
rs72942266	1.00[AMR][1000 genomes]
rs72942288	1.00[AMR][1000 genomes]
rs72944104	1.00[AMR][1000 genomes]
rs72944109	1.00[AMR][1000 genomes]
rs72944117	1.00[AMR][1000 genomes]
rs72946006	1.00[AMR][1000 genomes]
rs72946019	1.00[AMR][1000 genomes]
rs72946027	1.00[AMR][1000 genomes]
rs72946028	1.00[AMR][1000 genomes]
rs72948009	1.00[AMR][1000 genomes]
rs72948019	1.00[AMR][1000 genomes]
rs72948050	1.00[AMR][1000 genomes]
rs72948052	1.00[AMR][1000 genomes]
rs72948055	1.00[AMR][1000 genomes]
rs72948056	1.00[AMR][1000 genomes]
rs72948070	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv965193	chr3:101294846-101297410	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101294000-101298400	Weak transcription	Pancreas	Pancrea
2	chr3:101294000-101298400	Weak transcription	Small Intestine	intestine
3	chr3:101294000-101301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:101294000-101305200	Weak transcription	Esophagus	oesophagus
5	chr3:101294000-101312200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:101294200-101296000	Weak transcription	Placenta	Placenta
7	chr3:101294200-101309000	Weak transcription	Colonic Mucosa	Colon
8	chr3:101294200-101310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:101294200-101319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:101294400-101298400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:101294400-101309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:101294600-101297200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:101294600-101297600	Weak transcription	Fetal Lung	lung
14	chr3:101294600-101298600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:101294600-101298600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:101294800-101296200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:101294800-101296200	Weak transcription	Stomach Mucosa	stomach
18	chr3:101294800-101297000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:101294800-101297400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:101294800-101297600	Weak transcription	HSMM	muscle
21	chr3:101294800-101298400	Weak transcription	Brain Substantia Nigra	brain
22	chr3:101294800-101298400	Weak transcription	Right Ventricle	heart
23	chr3:101294800-101298600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:101294800-101301200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:101294800-101305200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:101295000-101296000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:101295000-101296000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:101295000-101296000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:101295000-101296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:101295000-101296000	Weak transcription	Fetal Heart	heart
31	chr3:101295000-101296000	Genic enhancers	GM12878-XiMat	blood
32	chr3:101295000-101296000	Weak transcription	Hela-S3	cervix
33	chr3:101295000-101296000	Weak transcription	NH-A	brain
34	chr3:101295000-101296200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:101295000-101296200	Weak transcription	HepG2	liver
36	chr3:101295000-101296400	Weak transcription	Primary B cells from cord blood	blood
37	chr3:101295000-101296400	Weak transcription	HSMMtube	muscle
38	chr3:101295000-101296600	Weak transcription	NHDF-Ad	bronchial
39	chr3:101295000-101296800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:101295000-101297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:101295000-101297000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:101295000-101297200	Weak transcription	Brain Angular Gyrus	brain
43	chr3:101295000-101297600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:101295000-101298400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:101295000-101298400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr3:101295000-101298400	Weak transcription	Liver	Liver
47	chr3:101295000-101298400	Weak transcription	Osteobl	bone
48	chr3:101295000-101298600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:101295000-101298600	Weak transcription	Fetal Kidney	kidney
50	chr3:101295000-101298600	Enhancers	Skeletal Muscle Female	skeletal muscle

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