Variant report

Variant	rs35362296
Chromosome Location	chr5:179262442-179262443
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	chr5:179260822..179263352-chr5:179278542..179281084,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12810503	1.00[AMR][1000 genomes]
rs12813980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12814235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12817169	0.96[AMR][1000 genomes]
rs12819523	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12819930	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12820593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12824585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12830584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12832396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718153	0.92[AMR][1000 genomes]
rs17432871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17434640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17525809	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2260138	0.92[AMR][1000 genomes]
rs2464844	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28360446	1.00[AFR][1000 genomes]
rs28969465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28969469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34185850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34325588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34449339	0.82[AMR][1000 genomes]
rs34480856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34805626	0.82[AMR][1000 genomes]
rs34811727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34934130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35018823	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs35076950	1.00[AMR][1000 genomes]
rs35158421	0.82[AMR][1000 genomes]
rs35237790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35455367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35579189	0.92[AMR][1000 genomes]
rs35605477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35607692	0.87[AMR][1000 genomes]
rs35760636	0.84[AMR][1000 genomes]
rs35869834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35940217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36133237	0.82[AMR][1000 genomes]
rs494986	0.96[AMR][1000 genomes]
rs513113	0.92[AMR][1000 genomes]
rs514109	0.92[AMR][1000 genomes]
rs56098349	0.82[AMR][1000 genomes]
rs583187	0.88[AMR][1000 genomes]
rs585847	0.92[AMR][1000 genomes]
rs588130	0.92[AMR][1000 genomes]
rs588510	0.92[AMR][1000 genomes]
rs588573	0.92[AMR][1000 genomes]
rs599785	0.92[AMR][1000 genomes]
rs603891	0.92[AMR][1000 genomes]
rs618201	0.92[AMR][1000 genomes]
rs657172	0.96[AMR][1000 genomes]
rs66570654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66811517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67691679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67739439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67881993	0.91[AMR][1000 genomes]
rs67898046	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71454676	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs71454679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71454680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73214191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73214199	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73216114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73218241	1.00[AMR][1000 genomes]
rs934353	0.92[AMR][1000 genomes]
rs934354	0.92[AMR][1000 genomes]
rs934355	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
11	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179249600-179262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:179250000-179263000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:179250200-179272000	Strong transcription	Fetal Muscle Leg	muscle
4	chr5:179250200-179272800	Weak transcription	Fetal Brain Male	brain
5	chr5:179251200-179263200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:179251600-179263200	Weak transcription	Right Atrium	heart
7	chr5:179251800-179267800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr5:179252400-179263600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179255000-179268800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:179255200-179263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:179255200-179263200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:179255200-179263200	Strong transcription	Esophagus	oesophagus
13	chr5:179255200-179263200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:179255200-179263400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:179255200-179269000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:179255400-179266000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:179257000-179264400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:179257000-179265400	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr5:179258200-179274800	Weak transcription	Fetal Heart	heart
20	chr5:179259600-179263200	Strong transcription	Right Ventricle	heart
21	chr5:179259600-179263200	Strong transcription	Spleen	Spleen
22	chr5:179261000-179263000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:179261000-179263000	Weak transcription	Fetal Kidney	kidney
24	chr5:179261000-179263000	Weak transcription	Hela-S3	cervix
25	chr5:179261000-179263000	Weak transcription	HMEC	breast
26	chr5:179261000-179263000	Weak transcription	HSMM	muscle
27	chr5:179261000-179263000	Weak transcription	K562	blood
28	chr5:179261000-179263200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:179261000-179263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:179261000-179263200	Strong transcription	Gastric	stomach
31	chr5:179261000-179263200	Weak transcription	Psoas Muscle	Psoas
32	chr5:179261000-179263200	Weak transcription	Stomach Mucosa	stomach
33	chr5:179261000-179263200	Weak transcription	NHEK	skin
34	chr5:179261000-179264000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:179261000-179266400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:179261200-179262600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:179261200-179262600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:179261200-179262600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:179261200-179262600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:179261200-179262600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:179261200-179262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:179261200-179262600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:179261200-179262600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:179261200-179262800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:179261200-179262800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:179261200-179263000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr5:179261200-179263000	Weak transcription	Primary T cells from cord blood	blood
48	chr5:179261200-179263000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:179261200-179263000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:179261200-179263000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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