Variant report

Variant	rs7021973
Chromosome Location	chr9:7085619-7085620
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	chr9:7080307..7083078-chr9:7084798..7086869,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10429452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1093708	0.82[JPT][hapmap]
rs10975977	0.82[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs10975979	0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs10975982	0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs10975983	0.83[EUR][1000 genomes]
rs10976002	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10976003	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs10976004	1.00[CEU][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs10976011	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[EUR][1000 genomes]
rs10976016	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10976022	0.81[ASN][1000 genomes]
rs10976034	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12002543	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.97[ASN][1000 genomes]
rs12235561	0.83[EUR][1000 genomes]
rs12236257	0.83[EUR][1000 genomes]
rs12237215	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs1323402	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs1407859	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1575451	0.87[EUR][1000 genomes]
rs1578326	0.87[EUR][1000 genomes]
rs16925141	0.82[CEU][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs16925271	0.85[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs16925300	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814048	0.81[JPT][hapmap]
rs2297963	0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs2792241	0.82[JPT][hapmap]
rs2792242	0.80[JPT][hapmap]
rs2890734	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2890735	0.87[EUR][1000 genomes]
rs3898793	0.80[ASN][1000 genomes]
rs56063552	0.87[EUR][1000 genomes]
rs60485419	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62533861	0.95[EUR][1000 genomes]
rs62534416	0.83[EUR][1000 genomes]
rs62534459	0.89[EUR][1000 genomes]
rs6477148	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6477151	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024887	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7026804	1.00[CEU][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7031605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032864	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7036253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7038205	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72703338	0.83[EUR][1000 genomes]
rs72703343	0.85[EUR][1000 genomes]
rs7848775	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866381	0.81[ASN][1000 genomes]
rs8181057	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs8181075	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs818881	0.88[JPT][hapmap]
rs818890	0.82[JPT][hapmap]
rs818897	0.82[JPT][hapmap]
rs9696647	0.81[ASN][1000 genomes]
rs9696648	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv869932	chr9:7068359-7133384	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	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	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
2	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
3	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:7052600-7086400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:7053000-7086600	Weak transcription	Fetal Intestine Large	intestine
8	chr9:7053200-7099200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:7058400-7088600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:7061200-7104600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:7061600-7103600	Weak transcription	Spleen	Spleen
12	chr9:7062800-7096400	Weak transcription	Fetal Intestine Small	intestine
13	chr9:7066200-7096200	Weak transcription	Stomach Mucosa	stomach
14	chr9:7067000-7088000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:7067200-7103600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:7068400-7103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:7071200-7087400	Strong transcription	Primary B cells from cord blood	blood
18	chr9:7072000-7088600	Strong transcription	Primary T cells from cord blood	blood
19	chr9:7073600-7099200	Weak transcription	NHEK	skin
20	chr9:7074600-7089800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:7075000-7097800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:7075400-7086400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:7075400-7088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:7075600-7105800	Weak transcription	NHLF	lung
25	chr9:7076600-7103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:7077000-7086400	Weak transcription	Hela-S3	cervix
27	chr9:7077000-7098000	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:7077800-7086400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:7077800-7086400	Weak transcription	Aorta	Aorta
30	chr9:7077800-7086400	Weak transcription	Esophagus	oesophagus
31	chr9:7077800-7086400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:7077800-7086400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:7077800-7086600	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:7077800-7089600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:7077800-7089800	Weak transcription	Psoas Muscle	Psoas
36	chr9:7077800-7103200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr9:7077800-7103200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:7077800-7103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:7077800-7103600	Weak transcription	Brain Angular Gyrus	brain
40	chr9:7077800-7103600	Weak transcription	HMEC	breast
41	chr9:7077800-7103600	Weak transcription	K562	blood
42	chr9:7077800-7103800	Weak transcription	HSMM	muscle
43	chr9:7078000-7086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr9:7078000-7086400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:7078000-7086400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:7078000-7086400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:7078000-7086400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:7078000-7086400	Weak transcription	Gastric	stomach
49	chr9:7078000-7086400	Weak transcription	HepG2	liver
50	chr9:7078000-7086600	Weak transcription	Left Ventricle	heart

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