Variant report

Variant	rs3099402
Chromosome Location	chr8:95494506-95494507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95484510..95486991-chr8:95494041..95495783,2	MCF-7	breast:
2	chr8:95487848..95490155-chr8:95493103..95496057,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10956912	0.96[EUR][1000 genomes]
rs11778733	0.96[EUR][1000 genomes]
rs11786007	0.96[EUR][1000 genomes]
rs2244209	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2255130	0.89[EUR][1000 genomes]
rs2263133	0.92[EUR][1000 genomes]
rs2445698	0.89[EUR][1000 genomes]
rs2445702	0.89[EUR][1000 genomes]
rs2445713	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2448907	0.92[EUR][1000 genomes]
rs2450248	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2450249	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2450550	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2450551	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2450552	0.89[EUR][1000 genomes]
rs2450555	0.92[EUR][1000 genomes]
rs2450560	0.96[EUR][1000 genomes]
rs2450562	0.89[EUR][1000 genomes]
rs2450563	0.87[AMR][1000 genomes]
rs2450564	0.92[EUR][1000 genomes]
rs2450566	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2450571	0.96[EUR][1000 genomes]
rs2450574	0.96[EUR][1000 genomes]
rs2450576	0.89[EUR][1000 genomes]
rs2450577	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2450579	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2470727	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2470729	0.89[EUR][1000 genomes]
rs2470730	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2470734	0.96[EUR][1000 genomes]
rs2470736	0.96[EUR][1000 genomes]
rs2470737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470741	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2470743	0.89[EUR][1000 genomes]
rs2470744	0.89[EUR][1000 genomes]
rs2470745	0.89[EUR][1000 genomes]
rs2470747	0.96[EUR][1000 genomes]
rs2515097	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515101	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515102	0.89[EUR][1000 genomes]
rs2515104	0.96[EUR][1000 genomes]
rs2515105	0.96[EUR][1000 genomes]
rs2515106	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515119	0.92[EUR][1000 genomes]
rs2515120	0.92[EUR][1000 genomes]
rs2515121	0.92[EUR][1000 genomes]
rs2515122	0.89[EUR][1000 genomes]
rs2515132	0.92[EUR][1000 genomes]
rs2515142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2515151	0.96[EUR][1000 genomes]
rs2515152	0.89[EUR][1000 genomes]
rs2515158	0.89[EUR][1000 genomes]
rs2515159	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515160	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515162	0.89[EUR][1000 genomes]
rs2515163	0.89[EUR][1000 genomes]
rs2515164	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2515168	0.89[EUR][1000 genomes]
rs3098702	0.92[EUR][1000 genomes]
rs3098704	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3098713	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3098717	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3098720	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3098723	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3098726	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3098727	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3099408	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3099409	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3099411	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3099415	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3099417	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3099419	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3102843	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3102844	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3102858	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3102863	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3102864	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3102866	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3102868	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3102869	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3102870	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3102871	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3102872	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3102873	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3133638	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3133642	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3133643	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3133644	0.87[ASN][1000 genomes]
rs3133647	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3133650	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3133652	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3136400	0.96[EUR][1000 genomes]
rs3136407	0.96[EUR][1000 genomes]
rs3136414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34432191	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs36040483	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56303696	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7007534	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs882521	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95487800-95500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:95487800-95500200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:95488000-95498800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:95488000-95499000	Weak transcription	NHDF-Ad	bronchial
5	chr8:95488000-95499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:95488000-95499200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:95488000-95499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:95488000-95499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:95488000-95499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:95488000-95499400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:95488000-95499400	Weak transcription	Brain Germinal Matrix	brain
12	chr8:95488000-95499400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:95488000-95499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:95488000-95499400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:95488000-95499400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:95488000-95499600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:95488000-95499600	Weak transcription	Liver	Liver
18	chr8:95488000-95499600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:95488000-95499600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:95488000-95499600	Weak transcription	Osteobl	bone
21	chr8:95488000-95499800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:95488000-95499800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:95488000-95500000	Weak transcription	GM12878-XiMat	blood
24	chr8:95488000-95500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:95488000-95500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:95488000-95500400	Weak transcription	Primary B cells from cord blood	blood
27	chr8:95488000-95500400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:95488000-95500400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:95488000-95500400	Weak transcription	HMEC	breast
30	chr8:95488000-95500400	Weak transcription	HUVEC	blood vessel
31	chr8:95488000-95501800	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:95488000-95502200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:95488000-95503600	Weak transcription	NHEK	skin
34	chr8:95488200-95499200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:95488200-95499400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:95488200-95500200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:95488200-95501000	Weak transcription	Hela-S3	cervix
38	chr8:95488200-95507800	Weak transcription	NHLF	lung
39	chr8:95491200-95499400	Weak transcription	Placenta	Placenta
40	chr8:95491200-95499400	Weak transcription	HSMM	muscle
41	chr8:95491600-95499200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:95492000-95500400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:95492200-95499200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:95492200-95503000	Weak transcription	HepG2	liver
45	chr8:95492600-95499600	Weak transcription	Brain Substantia Nigra	brain
46	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:95493200-95500200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:95493400-95499400	Weak transcription	Left Ventricle	heart
49	chr8:95493400-95503600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:95494000-95499400	Weak transcription	Placenta Amnion	Placenta Amnion

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