Variant report

Variant	rs72704612
Chromosome Location	chr1:150717843-150717844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150716385..150719781-chr1:150720227..150722599,4	K562	blood:

Variant related genes	Relation type
ENSG00000163131	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10305748	1.00[AFR][1000 genomes]
rs35661734	1.00[AFR][1000 genomes]
rs72702577	1.00[AFR][1000 genomes]
rs72702591	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv872419	chr1:150699199-150738759	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3372156	chr1:150715228-150718076	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150701400-150727400	Weak transcription	Left Ventricle	heart
2	chr1:150704000-150736600	Weak transcription	Fetal Stomach	stomach
3	chr1:150705400-150723800	Weak transcription	Gastric	stomach
4	chr1:150705600-150723800	Weak transcription	Thymus	Thymus
5	chr1:150708400-150733000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:150709000-150719000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:150709000-150723800	Weak transcription	Esophagus	oesophagus
8	chr1:150709000-150727400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:150710200-150729200	Weak transcription	Psoas Muscle	Psoas
10	chr1:150711000-150735600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:150712000-150737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:150713400-150718800	Weak transcription	Adipose Nuclei	Adipose
13	chr1:150713400-150719200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:150714600-150723800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:150714800-150732200	Weak transcription	Stomach Mucosa	stomach
16	chr1:150715600-150728000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:150715800-150736200	Weak transcription	Small Intestine	intestine
18	chr1:150716600-150737000	Weak transcription	Pancreas	Pancrea
19	chr1:150717000-150720600	Strong transcription	Fetal Thymus	thymus
20	chr1:150717000-150720800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr1:150717000-150721200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr1:150717000-150721600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:150717000-150724200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:150717000-150724400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:150717000-150730800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:150717000-150731000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:150717000-150731400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:150717000-150732000	Strong transcription	Primary B cells from cord blood	blood
29	chr1:150717000-150732200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:150717000-150732200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:150717000-150732400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:150717000-150732800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:150717000-150733000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:150717200-150720000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:150717200-150720000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:150717200-150720200	Strong transcription	Colonic Mucosa	Colon
37	chr1:150717200-150721400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:150717200-150728000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:150717200-150730600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:150717200-150730800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:150717200-150731000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:150717200-150733600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:150717400-150718400	Strong transcription	Lung	lung
44	chr1:150717400-150719000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:150717400-150719800	Strong transcription	Spleen	Spleen
46	chr1:150717400-150720200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:150717400-150720400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:150717400-150722800	Strong transcription	GM12878-XiMat	blood
49	chr1:150717400-150723000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:150717400-150730600	Strong transcription	Primary T cells from cord blood	blood

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