Variant report

Variant	rs12569711
Chromosome Location	chr10:99522262-99522263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:99521353..99523999-chr10:99539664..99542040,2	K562	blood:
2	chr10:99498531..99500658-chr10:99522129..99523700,2	K562	blood:
3	chr10:99513873..99515513-chr10:99521364..99523630,2	K562	blood:
4	chr10:99520953..99523231-chr10:99523311..99525677,2	K562	blood:
5	chr10:99519399..99521043-chr10:99521564..99524372,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10786367	0.84[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10786370	0.84[CEU][hapmap]
rs10786371	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10786372	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10786374	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882993	0.80[CEU][hapmap];0.80[JPT][hapmap]
rs10882995	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882996	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882997	0.81[EUR][1000 genomes]
rs11189350	0.90[ASN][1000 genomes]
rs11189352	0.91[ASN][1000 genomes]
rs11189353	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11189355	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189356	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11189357	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189359	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11189360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11189361	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11189362	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11189367	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11189374	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11189376	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11189377	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11591898	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11597378	0.89[CHB][hapmap]
rs12412543	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569757	0.90[ASN][1000 genomes]
rs12780534	0.84[ASN][1000 genomes]
rs12783992	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1538723	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1556971	0.85[EUR][1000 genomes]
rs1981237	1.00[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1981238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039826	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34283185	0.81[EUR][1000 genomes]
rs3750612	0.94[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3750614	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3750615	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3814558	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3814559	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3814560	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4244329	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4244330	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4917784	0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4917785	0.87[ASN][1000 genomes]
rs7080894	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7080953	1.00[CEU][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7081361	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7099540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7100453	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7478323	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7907679	0.84[CEU][hapmap]
rs7916164	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7916454	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7922907	0.95[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs883324	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs946777	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs946778	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99497600-99522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:99498600-99522400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr10:99498600-99522400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr10:99498600-99523000	Strong transcription	Thymus	Thymus
5	chr10:99498600-99523600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:99498600-99524800	Weak transcription	Fetal Brain Male	brain
7	chr10:99498800-99522400	Strong transcription	Dnd41	blood
8	chr10:99499200-99522800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:99499200-99523400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:99499400-99522400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:99500000-99523000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr10:99500600-99523200	Strong transcription	Brain Germinal Matrix	brain
13	chr10:99502000-99522800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr10:99502200-99522600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:99502600-99522600	Strong transcription	Primary T cells from cord blood	blood
16	chr10:99502800-99522600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:99503000-99524000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:99503400-99522800	Strong transcription	Liver	Liver
19	chr10:99503600-99522400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr10:99504200-99523600	Strong transcription	Fetal Intestine Small	intestine
21	chr10:99506400-99523000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:99514800-99526600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:99515000-99522800	Weak transcription	Fetal Kidney	kidney
24	chr10:99515200-99523000	Strong transcription	Fetal Stomach	stomach
25	chr10:99515200-99523200	Strong transcription	Lung	lung
26	chr10:99515400-99526200	Weak transcription	NH-A	brain
27	chr10:99515800-99523000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:99517200-99525000	Weak transcription	NHDF-Ad	bronchial
29	chr10:99517800-99522400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr10:99517800-99523000	Weak transcription	Psoas Muscle	Psoas
31	chr10:99518600-99522400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:99518600-99522600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr10:99518800-99522400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr10:99518800-99522400	Strong transcription	Aorta	Aorta
35	chr10:99518800-99522400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr10:99518800-99522400	Strong transcription	NHEK	skin
37	chr10:99518800-99522800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:99518800-99522800	Strong transcription	Spleen	Spleen
39	chr10:99518800-99523000	Strong transcription	Fetal Brain Female	brain
40	chr10:99519000-99522400	Genic enhancers	Pancreas	Pancrea
41	chr10:99519000-99522400	Strong transcription	A549	lung
42	chr10:99519000-99522600	Strong transcription	Esophagus	oesophagus
43	chr10:99519000-99522600	Strong transcription	Gastric	stomach
44	chr10:99519000-99522800	Strong transcription	Colonic Mucosa	Colon
45	chr10:99519200-99522400	Strong transcription	NHLF	lung
46	chr10:99519200-99524000	Strong transcription	GM12878-XiMat	blood
47	chr10:99519400-99522400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:99519600-99522600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr10:99519600-99523200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:99519800-99522400	Strong transcription	Fetal Muscle Trunk	muscle

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