Variant report

Variant	rs72950831
Chromosome Location	chr3:113253526-113253527
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:113225298..113228021-chr3:113252260..113254913,2	K562	blood:
2	chr3:113215914..113218639-chr3:113252642..113255587,3	MCF-7	breast:
3	chr3:113229615..113239929-chr3:113247196..113257849,45	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163611	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1398733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682492	1.00[EUR][1000 genomes]
rs56197161	0.87[EUR][1000 genomes]
rs58512733	0.81[AFR][1000 genomes]
rs59532653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66784102	0.81[AFR][1000 genomes]
rs67201219	0.81[AFR][1000 genomes]
rs67512681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113250800-113254600	Active TSS	GM12878-XiMat	blood
2	chr3:113251000-113253800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:113251600-113253800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr3:113252200-113253600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr3:113252400-113253600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
6	chr3:113252400-113254000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr3:113252400-113255000	Weak transcription	Gastric	stomach
8	chr3:113252600-113253600	Bivalent Enhancer	Placenta	Placenta
9	chr3:113252600-113253800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr3:113252600-113254000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr3:113252600-113254000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr3:113252600-113256400	Weak transcription	Esophagus	oesophagus
13	chr3:113252800-113253600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:113252800-113253800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr3:113252800-113253800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:113252800-113253800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:113252800-113253800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:113252800-113253800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr3:113252800-113253800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr3:113252800-113254000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr3:113252800-113254000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr3:113252800-113254000	Enhancers	Spleen	Spleen
23	chr3:113252800-113254200	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr3:113252800-113255000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:113253000-113253600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr3:113253000-113254000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr3:113253000-113254000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:113253200-113253600	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:113253200-113253600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr3:113253200-113253600	Enhancers	Small Intestine	intestine
31	chr3:113253200-113253800	Flanking Active TSS	Thymus	Thymus
32	chr3:113253200-113254000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr3:113253200-113254000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
34	chr3:113253400-113253600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr3:113253400-113253600	Flanking Active TSS	A549	lung
36	chr3:113253400-113253600	Bivalent Enhancer	Dnd41	blood
37	chr3:113253400-113253800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr3:113253400-113253800	Enhancers	Stomach Mucosa	stomach
39	chr3:113253400-113254000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:113253400-113254000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:113253400-113254200	Enhancers	Fetal Thymus	thymus
42	chr3:113253400-113254600	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:113253400-113256000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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