Variant report

Variant	rs9804630
Chromosome Location	chr11:85766582-85766583
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	chr11:85764603..85768167-chr11:85770443..85773239,4	K562	blood:
2	chr11:85763624..85765571-chr11:85766544..85768269,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11234493	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1237230	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1513390	0.95[ASN][1000 genomes]
rs1996108	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2077815	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2155051	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2458493	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2458496	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2458499	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2458500	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508688	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2509608	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2509609	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3016327	0.86[AMR][1000 genomes]
rs472618	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs488134	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs489486	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs494369	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs497711	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504129	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs527162	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs528109	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs540422	0.82[ASN][1000 genomes]
rs542167	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544458	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs544848	0.95[ASN][1000 genomes]
rs547767	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs548121	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs556562	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs564658	0.82[ASN][1000 genomes]
rs583126	0.98[ASN][1000 genomes]
rs585820	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs588076	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs588380	0.82[ASN][1000 genomes]
rs592297	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs592314	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs595972	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs597446	1.00[ASN][1000 genomes]
rs600258	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600743	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs601185	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603615	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs616555	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs617836	0.86[ASN][1000 genomes]
rs618001	0.93[ASN][1000 genomes]
rs618629	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs618679	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs622220	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs626542	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs627818	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs634719	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635168	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs637304	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs648270	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs654194	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs655641	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs659801	0.80[EUR][1000 genomes]
rs664050	0.84[ASN][1000 genomes]
rs669556	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670606	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs677909	0.82[AFR][1000 genomes]
rs680119	0.83[ASN][1000 genomes]
rs682366	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs75751	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7951988	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[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	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85752400-85768400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr11:85752800-85768200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:85753200-85768000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:85754400-85768200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:85756000-85767000	Enhancers	Brain Hippocampus Middle	brain
7	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
8	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:85758600-85774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:85759000-85773600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:85759400-85768200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr11:85759400-85773800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:85759400-85774400	Weak transcription	NHEK	skin
14	chr11:85759800-85772600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:85760200-85773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:85760400-85772000	Weak transcription	Pancreas	Pancrea
17	chr11:85761000-85768800	Genic enhancers	K562	blood
18	chr11:85761400-85768000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr11:85762200-85773800	Weak transcription	NHDF-Ad	bronchial
20	chr11:85762400-85773000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:85762800-85766600	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:85763000-85766600	Enhancers	Primary T cells from cord blood	blood
23	chr11:85763000-85766800	Enhancers	Adipose Nuclei	Adipose
24	chr11:85763000-85767000	Enhancers	Liver	Liver
25	chr11:85763000-85767600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr11:85763200-85772800	Weak transcription	NHLF	lung
27	chr11:85763400-85767400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:85763600-85766800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:85763600-85767000	Enhancers	Brain Anterior Caudate	brain
30	chr11:85763600-85767000	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:85763600-85767000	Enhancers	Colon Smooth Muscle	Colon
32	chr11:85763600-85767400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr11:85763600-85767400	Enhancers	Brain Angular Gyrus	brain
34	chr11:85763600-85767600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:85763800-85766600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:85763800-85766800	Enhancers	Fetal Heart	heart
37	chr11:85763800-85767800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:85763800-85768000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:85764000-85766600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:85764000-85767000	Enhancers	Right Ventricle	heart
41	chr11:85764000-85775000	Weak transcription	Fetal Brain Female	brain
42	chr11:85764200-85774800	Weak transcription	HMEC	breast
43	chr11:85764200-85775200	Weak transcription	Fetal Intestine Small	intestine
44	chr11:85764400-85767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:85764400-85769400	Weak transcription	Small Intestine	intestine
46	chr11:85764400-85770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:85764400-85771600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:85764400-85772600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:85764400-85777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:85764600-85769400	Weak transcription	Stomach Mucosa	stomach

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