Variant report

Variant	rs72959814
Chromosome Location	chr4:151513375-151513376
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	chr4:151512919..151514896-chr4:151526553..151529436,2	K562	blood:
2	chr4:151505572..151507998-chr4:151511625..151514449,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72957893	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959811	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959813	0.82[AFR][1000 genomes]
rs72961844	1.00[AMR][1000 genomes]
rs72961861	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4547	chr4:151486280-151531479	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151497600-151535400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:151500000-151543400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:151500800-151520000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:151501200-151559800	Weak transcription	Ovary	ovary
6	chr4:151501400-151514800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:151504600-151520200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:151505000-151519600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:151505000-151522000	Weak transcription	NHEK	skin
10	chr4:151505200-151513400	Weak transcription	Lung	lung
11	chr4:151505200-151520200	Weak transcription	Aorta	Aorta
12	chr4:151505200-151521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:151505200-151521400	Weak transcription	Esophagus	oesophagus
14	chr4:151505200-151522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:151505200-151522000	Weak transcription	Spleen	Spleen
16	chr4:151505400-151520000	Weak transcription	Left Ventricle	heart
17	chr4:151505400-151520400	Weak transcription	Dnd41	blood
18	chr4:151505400-151521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:151505400-151521800	Weak transcription	Thymus	Thymus
20	chr4:151505400-151522000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:151505400-151523600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:151505400-151524200	Weak transcription	Pancreas	Pancrea
23	chr4:151505400-151542200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:151505600-151519800	Weak transcription	Adipose Nuclei	Adipose
25	chr4:151506000-151521400	Weak transcription	Fetal Stomach	stomach
26	chr4:151506000-151522000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:151507800-151521800	Weak transcription	Fetal Lung	lung
28	chr4:151509800-151540200	Weak transcription	GM12878-XiMat	blood
29	chr4:151510800-151522000	Weak transcription	Fetal Thymus	thymus
30	chr4:151511000-151519600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:151511000-151522000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:151511000-151522000	Weak transcription	Liver	Liver
33	chr4:151511000-151522000	Weak transcription	HMEC	breast
34	chr4:151511000-151542800	Weak transcription	K562	blood
35	chr4:151511200-151522600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:151511400-151519800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:151511400-151519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:151512000-151514800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:151512000-151518200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:151512200-151519000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:151512200-151520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:151512400-151513600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:151512400-151518800	Weak transcription	Primary T cells from cord blood	blood
44	chr4:151512400-151519000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:151512400-151556000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:151512600-151518800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:151512600-151519600	Weak transcription	Primary B cells from cord blood	blood
48	chr4:151512800-151518600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:151512800-151519600	Weak transcription	Fetal Intestine Large	intestine
50	chr4:151512800-151550800	Weak transcription	Fetal Intestine Small	intestine

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