Variant report

Variant	rs2381570
Chromosome Location	chr9:7167704-7167705
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	chr9:7166311..7168822-chr9:7171544..7173706,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1011341	0.91[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10511462	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10815533	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467700	0.80[AMR][1000 genomes]
rs1887871	0.89[ASN][1000 genomes]
rs1887872	0.89[ASN][1000 genomes]
rs1928212	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1958344	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2026709	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2094613	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2248904	0.80[AMR][1000 genomes]
rs2381572	0.80[AMR][1000 genomes]
rs2770728	0.93[ASN][1000 genomes]
rs2770729	0.89[ASN][1000 genomes]
rs2770730	0.90[ASN][1000 genomes]
rs2770731	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2770732	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2770733	0.88[ASN][1000 genomes]
rs2770734	0.85[ASN][1000 genomes]
rs2770735	0.80[AMR][1000 genomes]
rs2770736	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2770737	0.80[AMR][1000 genomes]
rs2770741	0.89[ASN][1000 genomes]
rs2770742	0.89[ASN][1000 genomes]
rs2770743	0.88[ASN][1000 genomes]
rs2770744	0.85[ASN][1000 genomes]
rs2770745	0.89[ASN][1000 genomes]
rs2770746	0.83[ASN][1000 genomes]
rs2770747	0.83[ASN][1000 genomes]
rs2820918	0.87[ASN][1000 genomes]
rs2820919	0.83[ASN][1000 genomes]
rs2820920	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2820922	0.80[AMR][1000 genomes]
rs2820923	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2820925	0.88[ASN][1000 genomes]
rs2820926	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2820927	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2820928	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2820929	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2820930	0.90[ASN][1000 genomes]
rs2820931	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2820934	0.93[ASN][1000 genomes]
rs3753002	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3753003	0.81[AMR][1000 genomes]
rs7022054	0.84[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7874501	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs913584	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs913587	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs913589	0.84[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs913590	0.84[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs971380	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892166	chr9:6602821-7222495	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1023906	chr9:6731786-7372132	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv613259	chr9:7032776-7541338	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1015874	chr9:7048807-7434890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv539971	chr9:7048807-7434890	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv892190	chr9:7094860-7186074	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892191	chr9:7150997-7173752	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv892192	chr9:7153009-7257340	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv519762	chr9:7163530-7172498	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv528873	chr9:7163530-7177936	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7147200-7171000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:7147400-7174600	Weak transcription	NHEK	skin
3	chr9:7148600-7172200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:7148600-7185400	Weak transcription	HMEC	breast
5	chr9:7149600-7172200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:7149600-7185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:7149600-7186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:7149800-7172800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:7150400-7175800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:7150800-7169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:7150800-7172800	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:7151200-7171000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:7151200-7173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:7151800-7188600	Weak transcription	Colonic Mucosa	Colon
15	chr9:7152000-7172600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:7154400-7174400	Weak transcription	Aorta	Aorta
17	chr9:7154600-7169600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:7154800-7171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:7160800-7174400	Weak transcription	Fetal Stomach	stomach
20	chr9:7160800-7175200	Strong transcription	Primary B cells from cord blood	blood
21	chr9:7160800-7182000	Weak transcription	Dnd41	blood
22	chr9:7161600-7169400	Weak transcription	Fetal Intestine Small	intestine
23	chr9:7161800-7172000	Weak transcription	Brain Anterior Caudate	brain
24	chr9:7162600-7181600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr9:7162600-7182200	Weak transcription	Small Intestine	intestine
26	chr9:7163000-7168200	Strong transcription	Primary T cells from cord blood	blood
27	chr9:7163200-7172800	Weak transcription	Right Ventricle	heart
28	chr9:7163200-7177800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr9:7163400-7180600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:7163800-7172200	Weak transcription	Psoas Muscle	Psoas
31	chr9:7163800-7179000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr9:7164000-7168000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr9:7164000-7170000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:7164000-7174600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:7164000-7176200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr9:7164400-7168000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr9:7164400-7168400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:7164400-7172200	Weak transcription	NHDF-Ad	bronchial
39	chr9:7164600-7168000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:7164600-7168600	Strong transcription	Fetal Thymus	thymus
41	chr9:7164600-7178000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr9:7164800-7168000	Strong transcription	Liver	Liver
43	chr9:7165000-7167800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr9:7165200-7167800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:7165200-7168000	Strong transcription	Thymus	Thymus
46	chr9:7165200-7169800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:7165200-7170800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:7165400-7172400	Weak transcription	Stomach Mucosa	stomach
49	chr9:7165600-7169800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:7165600-7171000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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