Variant report

Variant	rs17430315
Chromosome Location	chr8:118859331-118859332
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118855769..118857808-chr8:118858590..118860796,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10089630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10094527	0.82[YRI][hapmap]
rs10098795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10103242	0.85[YRI][hapmap]
rs10103734	0.82[YRI][hapmap]
rs10105753	0.82[YRI][hapmap]
rs10107623	0.82[YRI][hapmap]
rs10110445	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10111197	0.82[YRI][hapmap]
rs10113092	0.82[YRI][hapmap]
rs10156308	0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676684	0.83[CEU][hapmap]
rs12677136	0.87[CEU][hapmap]
rs12680472	0.87[CEU][hapmap]
rs17430154	0.82[YRI][hapmap]
rs17430175	0.82[YRI][hapmap]
rs17430182	0.82[YRI][hapmap]
rs17430252	0.82[YRI][hapmap]
rs17430266	0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17430294	0.82[YRI][hapmap]
rs17430301	0.82[YRI][hapmap]
rs17430357	0.94[CEU][hapmap]
rs17430364	0.94[CEU][hapmap]
rs17439791	0.82[YRI][hapmap]
rs17439798	0.82[YRI][hapmap]
rs17439812	0.82[YRI][hapmap]
rs17439833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17439840	0.82[YRI][hapmap]
rs17450612	0.81[YRI][hapmap]
rs17452687	0.82[YRI][hapmap]
rs17474672	0.82[YRI][hapmap]
rs17474679	0.82[YRI][hapmap]
rs17474902	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17503377	0.82[YRI][hapmap]
rs17503447	0.82[YRI][hapmap]
rs28357257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4129114	0.88[CEU][hapmap]
rs6987177	0.82[YRI][hapmap]
rs9656922	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:118829800-118859800	Weak transcription	Esophagus	oesophagus
5	chr8:118832600-118859800	Weak transcription	Spleen	Spleen
6	chr8:118835000-118859600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:118835000-118859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:118845400-118859600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:118846600-118861800	Weak transcription	HUVEC	blood vessel
10	chr8:118848000-118859800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:118848200-118859600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:118848400-118859800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:118849600-118865800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:118850600-118859800	Weak transcription	A549	lung
15	chr8:118853600-118860000	Weak transcription	Right Ventricle	heart
16	chr8:118853800-118859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:118853800-118861200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:118855200-118859400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:118855200-118859400	Weak transcription	HMEC	breast
20	chr8:118855200-118859800	Weak transcription	Psoas Muscle	Psoas
21	chr8:118855400-118859400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:118855600-118859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:118855800-118859600	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:118855800-118859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:118855800-118859800	Weak transcription	Gastric	stomach
26	chr8:118855800-118862400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:118855800-118866200	Weak transcription	Liver	Liver
28	chr8:118857600-118859800	Weak transcription	Aorta	Aorta
29	chr8:118857600-118859800	Weak transcription	Fetal Intestine Large	intestine
30	chr8:118857600-118860000	Weak transcription	Fetal Lung	lung
31	chr8:118857600-118862600	Weak transcription	Stomach Mucosa	stomach
32	chr8:118857600-118865800	Weak transcription	Fetal Intestine Small	intestine
33	chr8:118857800-118859800	Weak transcription	NHLF	lung
34	chr8:118858000-118863600	Enhancers	Fetal Heart	heart
35	chr8:118858200-118859400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:118858200-118862200	Weak transcription	Small Intestine	intestine
37	chr8:118858400-118859400	Weak transcription	NHEK	skin
38	chr8:118858400-118859600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:118858400-118859800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:118858400-118861800	Enhancers	HSMMtube	muscle
41	chr8:118858400-118863400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:118858600-118863600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:118858800-118859600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:118858800-118861400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:118858800-118861600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:118858800-118861600	Enhancers	Left Ventricle	heart
47	chr8:118858800-118861600	Enhancers	Pancreas	Pancrea
48	chr8:118858800-118863400	Enhancers	HSMM	muscle
49	chr8:118858800-118863800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:118858800-118864000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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