Variant report

Variant	rs2285941
Chromosome Location	chr7:21553621-21553622
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21464898..21467027-chr7:21551635..21554348,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10216269	1.00[AMR][1000 genomes]
rs10228982	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233925	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235230	0.80[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238881	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10250403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10253281	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10254442	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254858	0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255890	0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10258911	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259756	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268107	0.80[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274755	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10275955	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12674126	1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs2158415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28419471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28490171	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28528275	1.00[AMR][1000 genomes]
rs28580454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28657649	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28661383	1.00[AMR][1000 genomes]
rs28666837	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55840028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55879742	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55908918	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57142662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57213984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58025439	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58223300	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61043546	0.86[AFR][1000 genomes]
rs6946711	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947378	0.86[AFR][1000 genomes]
rs6953601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685134	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685141	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73685144	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685154	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792713	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1030577	chr7:21548909-21681379	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
2	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
3	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
5	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:21540600-21554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:21541000-21554800	Weak transcription	Lung	lung
10	chr7:21546800-21553800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr7:21547800-21554000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:21548400-21556600	Weak transcription	Thymus	Thymus
13	chr7:21549000-21556400	Weak transcription	Primary T cells from cord blood	blood
14	chr7:21549400-21554800	Weak transcription	Fetal Brain Female	brain
15	chr7:21550800-21555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:21551400-21555800	Weak transcription	GM12878-XiMat	blood
17	chr7:21551600-21554600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:21551600-21555000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:21551600-21555200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:21551600-21555400	Weak transcription	Primary B cells from cord blood	blood
21	chr7:21551600-21556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:21551600-21556400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:21552000-21553800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:21552000-21556400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:21552000-21556400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:21552000-21556400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:21552000-21556600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:21552600-21554200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:21553000-21554800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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