Variant report

Variant	rs597457
Chromosome Location	chr9:101917790-101917791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101865796..101868676-chr9:101916718..101918824,2	K562	blood:
2	chr9:101906079..101907855-chr9:101915148..101917814,2	K562	blood:
3	chr9:101910109..101913329-chr9:101915349..101919610,4	K562	blood:
4	chr9:101911700..101915310-chr9:101917488..101920239,4	K562	blood:

Variant related genes	Relation type
ENSG00000106799	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1013186	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10283455	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10733708	0.87[ASN][1000 genomes]
rs10733709	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10739778	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10739779	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10760667	0.88[AMR][1000 genomes]
rs10760668	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10760669	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10760670	0.94[CEU][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10760671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10760672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10760673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10760674	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10819634	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10819635	0.83[CEU][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes]
rs10819636	0.95[ASN][1000 genomes]
rs10819637	0.85[EUR][1000 genomes]
rs10819638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10819639	0.95[CEU][hapmap]
rs10819640	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs10988703	0.84[EUR][1000 genomes]
rs10988706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10988709	1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[ASN][1000 genomes]
rs10988713	0.81[ASN][1000 genomes]
rs10988714	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10988715	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs10988716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10988717	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs10988723	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11568752	1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs11568753	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs11568770	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs11568778	0.91[CHB][hapmap];0.91[ASN][1000 genomes]
rs12346650	0.95[CHB][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12685571	1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[ASN][1000 genomes]
rs1571589	0.95[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1571590	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1590	0.89[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1626340	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1699413	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1888225	1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs1973518	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2026811	0.94[CEU][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334348	0.89[CEU][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs334349	0.89[CEU][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs334350	0.91[EUR][1000 genomes]
rs334351	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334353	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334355	0.94[CEU][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334356	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs334357	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs334358	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs334362	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334363	0.96[ASN][1000 genomes]
rs334364	0.96[ASN][1000 genomes]
rs334365	0.82[ASN][1000 genomes]
rs334366	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs334367	0.96[ASN][1000 genomes]
rs334370	0.94[ASN][1000 genomes]
rs334371	0.81[ASN][1000 genomes]
rs367568	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3739798	1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs383496	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs385057	0.91[EUR][1000 genomes]
rs401186	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs420549	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs44466	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6478972	0.94[CEU][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6478973	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7031302	0.89[CEU][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7031309	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7041311	0.91[CHB][hapmap]
rs7042852	0.94[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7043624	0.84[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7874221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs789675	0.92[EUR][1000 genomes]
rs868	1.00[CEU][hapmap];0.91[EUR][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	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr9:101892800-101921000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:101898000-101919400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:101903000-101921800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:101907200-101919800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:101908200-101922000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:101908400-101918000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:101908600-101924600	Weak transcription	Gastric	stomach
8	chr9:101909000-101918600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:101909000-101920000	Weak transcription	HepG2	liver
10	chr9:101909200-101918000	Weak transcription	Fetal Stomach	stomach
11	chr9:101910400-101920800	Weak transcription	K562	blood
12	chr9:101911000-101920600	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:101911200-101918200	Weak transcription	Fetal Brain Female	brain
14	chr9:101911200-101921800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:101911200-101922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:101911400-101925000	Weak transcription	Dnd41	blood
17	chr9:101911600-101922000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:101911800-101920600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:101912400-101922200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:101912600-101932200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:101913000-101918000	Weak transcription	NHDF-Ad	bronchial
22	chr9:101913000-101922000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:101913200-101921400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:101913400-101917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:101913400-101919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:101914600-101918400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:101914600-101918600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:101914600-101920800	Weak transcription	Esophagus	oesophagus
29	chr9:101914600-101921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:101914800-101917800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:101914800-101917800	Weak transcription	Adipose Nuclei	Adipose
32	chr9:101914800-101918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:101914800-101918400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:101914800-101918800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr9:101914800-101919000	Weak transcription	Brain Hippocampus Middle	brain
36	chr9:101914800-101920600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:101914800-101921000	Weak transcription	Lung	lung
38	chr9:101914800-101921000	Weak transcription	Pancreas	Pancrea
39	chr9:101914800-101921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:101914800-101921800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:101914800-101922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:101914800-101922000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr9:101914800-101925000	Weak transcription	Aorta	Aorta
44	chr9:101914800-101927600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:101914800-101929800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:101915000-101918000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:101915000-101919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:101915000-101920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:101915200-101917800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr9:101915200-101917800	Weak transcription	Fetal Muscle Leg	muscle

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