Variant report

Variant	rs72934693
Chromosome Location	chr2:85531251-85531252
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	chr2:85530887..85533242-chr2:85535145..85537307,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6750885	1.00[AMR][1000 genomes]
rs6753341	1.00[AMR][1000 genomes]
rs72934684	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834282	chr2:85464394-85641312	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85510000-85531800	Weak transcription	Right Ventricle	heart
2	chr2:85512800-85532600	Weak transcription	Fetal Kidney	kidney
3	chr2:85513000-85531600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:85513000-85532200	Weak transcription	NHDF-Ad	bronchial
5	chr2:85513200-85536000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:85514400-85536000	Weak transcription	Esophagus	oesophagus
7	chr2:85516200-85537000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:85518600-85536000	Weak transcription	Right Atrium	heart
9	chr2:85519000-85533200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:85519600-85541600	Weak transcription	Pancreas	Pancrea
11	chr2:85521800-85531600	Weak transcription	HSMM	muscle
12	chr2:85521800-85531600	Weak transcription	HSMMtube	muscle
13	chr2:85521800-85534000	Weak transcription	Hela-S3	cervix
14	chr2:85521800-85537800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:85522000-85531800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:85522200-85532200	Weak transcription	Liver	Liver
17	chr2:85526000-85532200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:85526000-85532200	Weak transcription	Left Ventricle	heart
19	chr2:85526000-85534800	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:85526000-85535000	Weak transcription	Osteobl	bone
21	chr2:85526000-85536200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:85526200-85543600	Weak transcription	HMEC	breast
23	chr2:85526400-85537400	Weak transcription	NHEK	skin
24	chr2:85527800-85534400	Weak transcription	Colonic Mucosa	Colon
25	chr2:85528200-85533000	Weak transcription	Spleen	Spleen
26	chr2:85528400-85534600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:85528400-85536400	Weak transcription	A549	lung
28	chr2:85528400-85538800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:85528600-85532000	Weak transcription	Placenta	Placenta
30	chr2:85528600-85538000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:85528800-85535800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:85528800-85535800	Strong transcription	Fetal Stomach	stomach
33	chr2:85529000-85533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:85529200-85535000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:85529200-85535600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:85529200-85535600	Weak transcription	Brain Anterior Caudate	brain
37	chr2:85529200-85536000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:85529200-85536200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr2:85529200-85536800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr2:85529200-85537200	Strong transcription	Fetal Lung	lung
41	chr2:85529200-85538000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:85529200-85538000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:85529200-85538000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:85529400-85533400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr2:85529400-85535000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:85529400-85535000	Strong transcription	Ovary	ovary
47	chr2:85529400-85535200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:85529400-85535600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:85529400-85537800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:85529400-85538000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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