Variant report

Variant	rs72951170
Chromosome Location	chr2:98357718-98357719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98326109..98328548-chr2:98356181..98358918,2	MCF-7	breast:
2	chr2:98355724..98358443-chr2:98358896..98360638,2	MCF-7	breast:
3	chr2:98317266..98319874-chr2:98357687..98360540,2	K562	blood:
4	chr2:98356777..98357774-chr2:99001218..99001971,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59294983	1.00[AFR][1000 genomes]
rs59646872	1.00[AFR][1000 genomes]
rs72944400	1.00[AFR][1000 genomes]
rs72944402	0.80[AFR][1000 genomes]
rs72946446	0.80[AFR][1000 genomes]
rs72946451	0.80[AFR][1000 genomes]
rs72951165	0.80[AFR][1000 genomes]
rs72951174	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
4	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
8	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:98350000-98360400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:98353400-98358400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:98354400-98358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon
14	chr2:98355000-98359600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr2:98355000-98373200	Weak transcription	Gastric	stomach
16	chr2:98356200-98358000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:98356400-98357800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:98356600-98358200	Weak transcription	Spleen	Spleen
19	chr2:98356600-98360000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:98356600-98360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:98356600-98362000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:98356800-98357800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:98356800-98358200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:98356800-98362200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:98356800-98363000	Weak transcription	HSMMtube	muscle
26	chr2:98357000-98358000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:98357000-98358800	Genic enhancers	Fetal Thymus	thymus
28	chr2:98357000-98359000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:98357000-98359200	Enhancers	Fetal Muscle Leg	muscle
30	chr2:98357000-98365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:98357200-98357800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:98357200-98358000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:98357200-98358200	Weak transcription	Primary T cells from cord blood	blood
34	chr2:98357200-98358600	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:98357200-98359200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:98357200-98359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:98357200-98359200	Enhancers	NHEK	skin
38	chr2:98357200-98359600	Enhancers	Right Atrium	heart
39	chr2:98357200-98360400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:98357200-98361000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:98357200-98367400	Weak transcription	Brain Substantia Nigra	brain
42	chr2:98357400-98357800	Enhancers	HepG2	liver
43	chr2:98357400-98358000	Weak transcription	Fetal Heart	heart
44	chr2:98357400-98358200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:98357400-98358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:98357400-98358400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:98357400-98358400	Weak transcription	Adipose Nuclei	Adipose
48	chr2:98357400-98358800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:98357400-98358800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:98357400-98358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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