Variant report

Variant	rs28696132
Chromosome Location	chr8:9432444-9432445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10090598	0.86[EUR][1000 genomes]
rs10094314	0.80[AMR][1000 genomes]
rs10109688	0.89[EUR][1000 genomes]
rs11774818	0.92[EUR][1000 genomes]
rs11775432	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11776199	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11777891	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11780046	0.81[AMR][1000 genomes]
rs11780274	0.88[EUR][1000 genomes]
rs11780757	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784858	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11991547	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11994018	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12547639	0.90[EUR][1000 genomes]
rs13249570	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13250838	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13256939	0.92[EUR][1000 genomes]
rs13258733	0.99[EUR][1000 genomes]
rs13261385	0.81[EUR][1000 genomes]
rs13261660	0.82[EUR][1000 genomes]
rs13263825	0.94[EUR][1000 genomes]
rs13264510	0.81[EUR][1000 genomes]
rs13265363	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13267100	0.93[EUR][1000 genomes]
rs13268770	0.89[EUR][1000 genomes]
rs13270240	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13273330	0.92[EUR][1000 genomes]
rs13273771	0.94[EUR][1000 genomes]
rs13274310	0.97[EUR][1000 genomes]
rs13275867	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13276464	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13277588	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13280515	0.89[EUR][1000 genomes]
rs13282049	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1393	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1471203	0.86[AMR][1000 genomes]
rs17150201	0.82[EUR][1000 genomes]
rs17150206	0.85[EUR][1000 genomes]
rs28711551	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34095920	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34173677	0.88[EUR][1000 genomes]
rs34182142	0.85[EUR][1000 genomes]
rs34319155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34393110	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34413242	0.83[EUR][1000 genomes]
rs34638238	0.89[EUR][1000 genomes]
rs34679455	0.89[EUR][1000 genomes]
rs34848966	0.97[EUR][1000 genomes]
rs34926681	0.90[EUR][1000 genomes]
rs34973657	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35017872	0.94[EUR][1000 genomes]
rs35054885	0.90[EUR][1000 genomes]
rs35197051	0.97[EUR][1000 genomes]
rs35200157	0.81[AMR][1000 genomes]
rs35361105	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35700558	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35722901	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35812948	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35890521	0.99[EUR][1000 genomes]
rs36090374	0.84[EUR][1000 genomes]
rs4128324	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4263773	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4282576	0.92[EUR][1000 genomes]
rs4376499	0.94[EUR][1000 genomes]
rs4458881	0.92[EUR][1000 genomes]
rs4493906	0.90[EUR][1000 genomes]
rs4535743	0.89[EUR][1000 genomes]
rs4551359	0.94[EUR][1000 genomes]
rs4570159	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4840432	0.92[EUR][1000 genomes]
rs4841169	0.86[AMR][1000 genomes]
rs4841172	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4841186	0.92[EUR][1000 genomes]
rs4841194	0.88[EUR][1000 genomes]
rs55797444	0.89[AMR][1000 genomes]
rs62493904	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62493905	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7009486	0.86[AMR][1000 genomes]
rs7013834	0.96[EUR][1000 genomes]
rs71516518	0.96[EUR][1000 genomes]
rs71516523	0.89[EUR][1000 genomes]
rs7388554	0.90[AMR][1000 genomes]
rs7463594	0.88[EUR][1000 genomes]
rs7824880	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7839648	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9650636	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:9416200-9432600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:9417600-9437600	Weak transcription	Dnd41	blood
11	chr8:9418000-9435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:9418600-9434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:9422200-9438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:9422400-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
16	chr8:9425800-9435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:9427000-9435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
19	chr8:9428000-9433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:9428000-9434600	Weak transcription	HepG2	liver
21	chr8:9428000-9435400	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:9428200-9434800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:9428200-9435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:9428200-9435400	Weak transcription	Gastric	stomach
25	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:9428400-9433400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:9428400-9435000	Weak transcription	Right Ventricle	heart
28	chr8:9428400-9435200	Weak transcription	Aorta	Aorta
29	chr8:9428400-9435200	Weak transcription	Ovary	ovary
30	chr8:9428400-9435400	Weak transcription	Left Ventricle	heart
31	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
32	chr8:9428800-9435000	Weak transcription	Fetal Heart	heart
33	chr8:9429000-9437200	Weak transcription	Brain Angular Gyrus	brain
34	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
35	chr8:9429200-9437800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:9430000-9433200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:9430200-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:9430200-9442400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:9430600-9440400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:9431000-9433600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:9431000-9434400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:9431000-9440000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
45	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:9431400-9432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:9431400-9432600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:9431800-9432600	Enhancers	Brain Anterior Caudate	brain

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