Variant report

Variant	rs72751597
Chromosome Location	chr9:100593662-100593663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100585593..100587654-chr9:100591414..100594781,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10983845	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10983892	1.00[ASN][1000 genomes]
rs10983893	1.00[ASN][1000 genomes]
rs10983896	1.00[ASN][1000 genomes]
rs10984009	1.00[ASN][1000 genomes]
rs10984098	1.00[ASN][1000 genomes]
rs12377722	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13295123	1.00[ASN][1000 genomes]
rs1443433	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478403	1.00[ASN][1000 genomes]
rs7032302	1.00[ASN][1000 genomes]
rs721417	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751594	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753506	1.00[ASN][1000 genomes]
rs72753508	1.00[ASN][1000 genomes]
rs7860766	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871887	1.00[ASN][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	nsv1043753	chr9:100458109-100599265	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100593000-100593800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:100593000-100593800	Enhancers	A549	lung
3	chr9:100593200-100593800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr9:100593200-100593800	Enhancers	Brain Germinal Matrix	brain
5	chr9:100593200-100594000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr9:100593200-100594200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:100593200-100594400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:100593200-100594600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:100593200-100594600	Enhancers	Fetal Heart	heart
10	chr9:100593400-100593800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
11	chr9:100593400-100593800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:100593400-100593800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr9:100593400-100593800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:100593400-100593800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:100593400-100593800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:100593400-100593800	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr9:100593400-100594000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr9:100593400-100594000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr9:100593400-100594000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr9:100593400-100594000	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr9:100593400-100594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr9:100593400-100594400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:100593400-100594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:100593600-100593800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr9:100593600-100593800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:100593600-100593800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:100593600-100593800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:100593600-100593800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr9:100593600-100593800	Enhancers	HepG2	liver
30	chr9:100593600-100593800	Bivalent Enhancer	K562	blood
31	chr9:100593600-100594000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:100593600-100594000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:100593600-100594000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr9:100593600-100594000	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr9:100593600-100594000	Enhancers	Pancreas	Pancrea
36	chr9:100593600-100594200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr9:100593600-100594400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:100593600-100594400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr9:100593600-100594400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:100593600-100594600	Enhancers	Esophagus	oesophagus
41	chr9:100593600-100595200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:100593600-100595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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