Variant report

Variant	rs17131308
Chromosome Location	chr1:84702474-84702475
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	chr1:84701446..84703629-chr1:84722658..84725060,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10782825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11163916	1.00[GIH][hapmap]
rs11163925	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064346	1.00[GIH][hapmap]
rs12070215	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12126586	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12134263	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12135635	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12142220	0.82[CEU][hapmap]
rs17131371	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2811994	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs585992	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs600771	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs601301	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs605969	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs606816	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs606904	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs608672	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61766401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs620856	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs621670	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs621750	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs643521	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs663630	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9943254	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1816427	chr1:84670816-84715634	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv1823244	chr1:84670816-84715634	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv1824568	chr1:84670816-84715634	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv1822734	chr1:84678418-84715634	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv1845114	chr1:84678418-84715634	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv1851921	chr1:84678418-84715634	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84657600-84708000	Weak transcription	Left Ventricle	heart
2	chr1:84666800-84710200	Weak transcription	HSMMtube	muscle
3	chr1:84672600-84711200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:84675200-84712800	Weak transcription	NH-A	brain
5	chr1:84675800-84705000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84685400-84705400	Weak transcription	HUVEC	blood vessel
7	chr1:84685400-84705600	Weak transcription	Brain Germinal Matrix	brain
8	chr1:84685600-84713400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:84690000-84719400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:84690200-84707400	Weak transcription	Right Ventricle	heart
11	chr1:84690400-84702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:84690400-84705000	Weak transcription	Aorta	Aorta
13	chr1:84690400-84711800	Weak transcription	Spleen	Spleen
14	chr1:84691200-84712200	Weak transcription	Pancreas	Pancrea
15	chr1:84691400-84705000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:84691400-84707000	Weak transcription	Fetal Stomach	stomach
17	chr1:84691600-84705000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:84697400-84705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:84698600-84705400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:84699000-84707000	Weak transcription	Psoas Muscle	Psoas
21	chr1:84699600-84713000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:84699800-84711600	Weak transcription	A549	lung
23	chr1:84700200-84702800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:84700400-84706200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:84700600-84702600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:84700600-84702800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:84700600-84703400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:84700600-84705800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:84700600-84705800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:84700600-84705800	Strong transcription	Brain Hippocampus Middle	brain
31	chr1:84700600-84706000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:84700600-84706200	Strong transcription	Fetal Thymus	thymus
33	chr1:84700600-84706200	Strong transcription	Dnd41	blood
34	chr1:84700600-84706600	Strong transcription	Primary T cells from cord blood	blood
35	chr1:84700600-84706600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:84700800-84702600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:84700800-84702800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:84700800-84705600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:84700800-84706200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:84701200-84705400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr1:84701200-84705600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:84701200-84706000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:84701200-84707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:84701200-84707000	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:84701200-84707200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:84701200-84707600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:84701200-84711800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:84701200-84713200	Weak transcription	Colonic Mucosa	Colon
49	chr1:84701200-84717400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:84701200-84718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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