Variant report

Variant	rs11995671
Chromosome Location	chr8:19416443-19416444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19263735..19266088-chr8:19414623..19416973,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10088454	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10089231	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10095053	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10096224	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs10096861	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100557	0.83[CHB][hapmap]
rs10100589	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10101192	0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes]
rs10104448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10105363	1.00[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs10106622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109274	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10110641	0.91[CHB][hapmap]
rs10111704	0.91[CHB][hapmap]
rs10282938	0.83[CHB][hapmap]
rs10282948	0.83[CHB][hapmap]
rs10503649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10503651	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11988176	0.83[CHB][hapmap]
rs11996150	0.91[CHB][hapmap]
rs11996428	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12334362	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12335266	0.92[ASN][1000 genomes]
rs13248137	1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13248516	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13263246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265751	0.82[CHD][hapmap]
rs13280511	0.81[EUR][1000 genomes]
rs13281882	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13282951	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17128556	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs17128604	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17128609	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17128707	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28490401	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs28611430	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34362100	0.83[ASN][1000 genomes]
rs34524638	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35086264	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35989102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4282588	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4332151	0.83[CHB][hapmap]
rs4461917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4472532	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4481614	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4507779	0.83[CHB][hapmap]
rs4565470	0.83[CHB][hapmap]
rs4922059	0.83[ASN][1000 genomes]
rs4922066	0.86[CHD][hapmap]
rs56303837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57087900	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59703425	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59810980	0.93[ASN][1000 genomes]
rs61309921	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66758432	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67210305	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67389428	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68068544	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6980558	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6992213	1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6993026	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6995282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6995903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6996732	0.83[CHD][hapmap]
rs6996750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002643	0.91[CHB][hapmap];0.87[CHD][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes]
rs7004016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464041	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7814548	0.90[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840615	0.86[EUR][1000 genomes]
rs9692698	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv982131	chr8:19410907-19416541	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
3	chr8:19409000-19437400	Weak transcription	Gastric	stomach
4	chr8:19409200-19418000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:19409200-19418000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:19412400-19418000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:19412800-19417000	Enhancers	A549	lung
8	chr8:19413200-19417800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:19413800-19418000	Weak transcription	Spleen	Spleen
10	chr8:19413800-19418200	Weak transcription	Right Atrium	heart
11	chr8:19414000-19418000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:19414800-19416800	Weak transcription	Brain Angular Gyrus	brain
13	chr8:19415000-19417400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:19415000-19417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:19415000-19418000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:19415200-19417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:19415200-19418200	Weak transcription	Right Ventricle	heart
18	chr8:19415200-19419000	Weak transcription	Fetal Thymus	thymus
19	chr8:19415200-19419000	Weak transcription	Left Ventricle	heart
20	chr8:19415200-19422400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:19415400-19416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:19415400-19416800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:19415400-19417600	Weak transcription	Primary B cells from cord blood	blood
24	chr8:19415400-19418000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:19415400-19418000	Weak transcription	Thymus	Thymus
26	chr8:19415400-19418000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:19415400-19424400	Weak transcription	Aorta	Aorta
28	chr8:19415800-19416600	Enhancers	Brain Anterior Caudate	brain
29	chr8:19415800-19416800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr8:19415800-19417000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:19415800-19417000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:19415800-19417200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:19415800-19417400	Weak transcription	Primary T cells from cord blood	blood
34	chr8:19415800-19418000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:19415800-19419000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:19416000-19417000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:19416000-19417400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:19416000-19418000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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