Variant report

Variant	rs11986791
Chromosome Location	chr8:124795186-124795187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124794105..124797092-chr8:124803307..124805966,2	K562	blood:
2	chr8:124794765..124796733-chr8:124809769..124811684,2	MCF-7	breast:
3	chr8:124794688..124796229-chr8:124953654..124956422,2	MCF-7	breast:
4	chr8:124793347..124796014-chr8:124797395..124799697,4	K562	blood:
5	chr8:124794682..124797356-chr8:125451063..125452586,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10087476	0.98[ASN][1000 genomes]
rs10102074	0.87[ASN][1000 genomes]
rs10429369	0.91[EUR][1000 genomes]
rs10481071	0.98[ASN][1000 genomes]
rs10481072	0.98[ASN][1000 genomes]
rs10481073	0.98[ASN][1000 genomes]
rs10481151	0.98[ASN][1000 genomes]
rs12541177	0.91[ASN][1000 genomes]
rs12546891	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549683	0.91[ASN][1000 genomes]
rs12550235	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13253599	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13261392	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13270541	0.93[ASN][1000 genomes]
rs13275308	0.90[EUR][1000 genomes]
rs13278088	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278192	0.90[EUR][1000 genomes]
rs1367829	0.93[ASN][1000 genomes]
rs16898871	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1835691	0.91[EUR][1000 genomes]
rs1966620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2060112	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272683	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385515	0.98[ASN][1000 genomes]
rs2385516	0.96[ASN][1000 genomes]
rs28495871	0.98[ASN][1000 genomes]
rs34253744	0.87[EUR][1000 genomes]
rs34354351	0.91[EUR][1000 genomes]
rs34850344	0.88[EUR][1000 genomes]
rs35420592	0.95[EUR][1000 genomes]
rs3911939	0.94[ASN][1000 genomes]
rs4870867	0.91[EUR][1000 genomes]
rs4871414	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871415	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60068098	0.96[ASN][1000 genomes]
rs6470186	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66474276	0.91[ASN][1000 genomes]
rs66515434	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67139073	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67237665	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67958403	0.91[ASN][1000 genomes]
rs6985019	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986269	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6986384	0.98[ASN][1000 genomes]
rs6988602	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998271	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004482	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7012004	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7014688	0.91[EUR][1000 genomes]
rs7015861	0.93[ASN][1000 genomes]
rs7017174	0.87[EUR][1000 genomes]
rs73333742	0.91[EUR][1000 genomes]
rs73337418	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73337464	0.98[ASN][1000 genomes]
rs73337467	0.98[ASN][1000 genomes]
rs73337469	0.98[ASN][1000 genomes]
rs7815695	0.84[ASN][1000 genomes]
rs7827025	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7827665	0.87[ASN][1000 genomes]
rs7828192	0.87[ASN][1000 genomes]
rs7833650	0.90[ASN][1000 genomes]
rs7846164	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs874205	0.98[ASN][1000 genomes]
rs874206	0.98[ASN][1000 genomes]
rs874207	0.98[ASN][1000 genomes]
rs9297674	0.90[EUR][1000 genomes]
rs9297675	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297676	0.98[ASN][1000 genomes]
rs9918907	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124782800-124797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:124783400-124796000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:124783600-124795200	Weak transcription	Aorta	Aorta
8	chr8:124783600-124797400	Weak transcription	Right Ventricle	heart
9	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
10	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
14	chr8:124786200-124803000	Strong transcription	HMEC	breast
15	chr8:124786200-124814400	Strong transcription	HSMM	muscle
16	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:124786200-124815400	Strong transcription	Dnd41	blood
18	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:124786400-124796200	Strong transcription	K562	blood
20	chr8:124786400-124805400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:124786800-124801200	Strong transcription	HepG2	liver
26	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
27	chr8:124787000-124813800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:124787400-124814400	Strong transcription	A549	lung
32	chr8:124787600-124818800	Strong transcription	Liver	Liver
33	chr8:124787800-124796000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:124788600-124796000	Weak transcription	Fetal Brain Male	brain
35	chr8:124788800-124797400	Weak transcription	Pancreas	Pancrea
36	chr8:124789000-124802000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:124789200-124796000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:124789200-124796200	Weak transcription	Small Intestine	intestine
39	chr8:124789200-124797800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:124789400-124796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:124789400-124796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:124789400-124796000	Weak transcription	Gastric	stomach
44	chr8:124789400-124814800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
46	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:124789600-124811400	Strong transcription	Fetal Lung	lung
48	chr8:124789800-124801600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:124790000-124804000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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