Variant report

Variant	rs16904241
Chromosome Location	chr8:131309854-131309855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131302789..131304679-chr8:131308821..131310748,2	MCF-7	breast:
2	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
3	chr8:131296919..131299075-chr8:131308645..131310618,2	MCF-7	breast:
4	chr8:131283513..131285775-chr8:131309239..131311287,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10091130	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs10109236	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10505548	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10505549	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956513	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10956515	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956517	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956525	0.82[ASW][hapmap];0.82[CEU][hapmap];0.93[GIH][hapmap]
rs11779014	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11781752	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs11786705	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12541083	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12542411	0.83[AFR][1000 genomes]
rs12545910	0.83[EUR][1000 genomes]
rs12547397	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12547540	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12675390	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs12675543	0.83[AFR][1000 genomes]
rs12676836	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12679283	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12681954	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12681955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1417007	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1469286	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1549455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893271	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904204	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs16904208	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16904212	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs16904219	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904223	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904231	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904239	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904242	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904249	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1960661	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1974313	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2027377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305511	0.84[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs36004574	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3812476	1.00[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4733573	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733771	0.91[AFR][1000 genomes]
rs4733772	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4733782	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733783	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733788	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57198371	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62524635	0.96[AFR][1000 genomes]
rs62524643	0.91[AFR][1000 genomes]
rs62524649	0.91[AFR][1000 genomes]
rs62525884	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62525885	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62525888	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525889	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62525921	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62525922	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62525927	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525928	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6415511	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6415513	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6415514	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6415517	1.00[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];0.93[GIH][hapmap];0.82[MEX][hapmap]
rs6470813	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470814	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6991714	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6996469	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6999216	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7006336	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs716077	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs72722366	0.82[EUR][1000 genomes]
rs72722371	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72724420	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72724433	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7462286	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs754021	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297806	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282400-131314800	Weak transcription	Gastric	stomach
2	chr8:131297600-131311400	Weak transcription	Fetal Lung	lung
3	chr8:131300400-131314800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:131302800-131315400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:131303200-131310400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:131304400-131310000	Enhancers	HUVEC	blood vessel
8	chr8:131304400-131315600	Enhancers	Brain Hippocampus Middle	brain
9	chr8:131304600-131310600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr8:131304600-131311800	Enhancers	Brain Anterior Caudate	brain
11	chr8:131304800-131312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:131305200-131313800	Enhancers	Right Ventricle	heart
13	chr8:131305200-131315400	Enhancers	Brain Cingulate Gyrus	brain
14	chr8:131305400-131311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:131305800-131315400	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:131306000-131314600	Weak transcription	Placenta	Placenta
17	chr8:131306000-131314800	Weak transcription	Fetal Brain Female	brain
18	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:131306200-131310600	Enhancers	HepG2	liver
21	chr8:131306200-131312200	Weak transcription	Fetal Brain Male	brain
22	chr8:131306200-131314000	Weak transcription	Hela-S3	cervix
23	chr8:131306200-131314600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:131306200-131314600	Weak transcription	Fetal Thymus	thymus
25	chr8:131306200-131315000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:131306400-131310000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:131306400-131310400	Weak transcription	HMEC	breast
28	chr8:131306400-131312600	Weak transcription	Stomach Mucosa	stomach
29	chr8:131306600-131310000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:131306600-131310400	Enhancers	NHDF-Ad	bronchial
31	chr8:131306800-131312800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:131306800-131312800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:131306800-131314800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:131307000-131310600	Weak transcription	NHEK	skin
35	chr8:131307000-131312600	Weak transcription	Small Intestine	intestine
36	chr8:131307000-131314400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
38	chr8:131307200-131311000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:131307400-131311000	Enhancers	Fetal Muscle Leg	muscle
40	chr8:131307400-131312400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:131307600-131310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:131307600-131311000	Enhancers	Fetal Stomach	stomach
43	chr8:131307800-131310400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:131307800-131310400	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:131307800-131312600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:131308200-131310600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:131308200-131311600	Enhancers	Right Atrium	heart
48	chr8:131308400-131310000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:131308400-131310400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:131308400-131310400	Enhancers	HUES48 Cell Line	embryonic stem cell

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