Variant report

Variant	rs72859020
Chromosome Location	chr2:32081649-32081650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32080112..32081712-chr2:32087402..32089721,2	K562	blood:
2	chr2:32077985..32079821-chr2:32081346..32084219,3	K562	blood:
3	chr2:32081588..32083600-chr2:32085276..32086827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273165	Chromatin interaction

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

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

rs_ID	r²[population]
rs60619610	0.85[AFR][1000 genomes]
rs60900416	1.00[AFR][1000 genomes]
rs72859058	0.86[AFR][1000 genomes]
rs72860903	0.85[AFR][1000 genomes]
rs72862256	0.85[AFR][1000 genomes]
rs72862258	0.85[AFR][1000 genomes]
rs72862286	0.85[AFR][1000 genomes]
rs72867602	1.00[AFR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	esv1801791	chr2:32077901-32120807	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054600-32090400	Weak transcription	HSMM	muscle
2	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:32063000-32092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
6	chr2:32065000-32084800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:32065400-32088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:32065400-32123000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:32066600-32100600	Weak transcription	Primary T cells from cord blood	blood
10	chr2:32066800-32101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:32066800-32103400	Weak transcription	Fetal Thymus	thymus
12	chr2:32067000-32106200	Weak transcription	Left Ventricle	heart
13	chr2:32067200-32106000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:32067600-32089600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:32067800-32092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:32067800-32103400	Weak transcription	HMEC	breast
17	chr2:32068000-32088600	Weak transcription	NH-A	brain
18	chr2:32068000-32121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:32068400-32088600	Weak transcription	Liver	Liver
20	chr2:32068400-32089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:32068400-32106800	Weak transcription	Ovary	ovary
22	chr2:32068400-32115400	Weak transcription	NHEK	skin
23	chr2:32068400-32121400	Weak transcription	Fetal Brain Female	brain
24	chr2:32068600-32088800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:32068600-32089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:32068600-32100200	Weak transcription	A549	lung
27	chr2:32068600-32101800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:32068800-32101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:32068800-32106800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:32069000-32116600	Weak transcription	Osteobl	bone
31	chr2:32070600-32086800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:32071000-32115400	Weak transcription	Placenta	Placenta
33	chr2:32071200-32089200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:32071400-32106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:32071600-32106000	Weak transcription	Fetal Stomach	stomach
36	chr2:32071800-32116000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:32072600-32101800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:32072600-32111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:32073000-32091400	Weak transcription	Pancreas	Pancrea
40	chr2:32073200-32085200	Weak transcription	HUVEC	blood vessel
41	chr2:32073200-32102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:32073600-32103000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:32074200-32095200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:32074600-32127000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
46	chr2:32077200-32115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:32077200-32116400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:32077800-32082800	Weak transcription	Psoas Muscle	Psoas
49	chr2:32078200-32101800	Weak transcription	HSMMtube	muscle
50	chr2:32078400-32101800	Weak transcription	Fetal Intestine Large	intestine

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