Variant report

Variant	rs7518171
Chromosome Location	chr1:93730129-93730130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93728185..93731169-chr1:93735951..93738017,2	MCF-7	breast:
2	chr1:93725585..93728395-chr1:93728407..93730397,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10157785	1.00[EUR][1000 genomes]
rs10489733	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1054165	1.00[EUR][1000 genomes]
rs1057256	0.91[AMR][1000 genomes]
rs11164911	1.00[JPT][hapmap]
rs11799543	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11799859	1.00[EUR][1000 genomes]
rs11799928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11800760	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11801175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11801563	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11801977	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11802421	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802822	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11805046	1.00[EUR][1000 genomes]
rs11807404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808266	1.00[EUR][1000 genomes]
rs11808445	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11809153	0.91[AMR][1000 genomes]
rs12239183	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12239921	1.00[EUR][1000 genomes]
rs17109954	1.00[EUR][1000 genomes]
rs17110016	1.00[EUR][1000 genomes]
rs17131715	1.00[EUR][1000 genomes]
rs17131717	1.00[EUR][1000 genomes]
rs1932313	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2815413	1.00[JPT][hapmap]
rs28829343	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35555794	1.00[EUR][1000 genomes]
rs41528947	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4847409	1.00[JPT][hapmap]
rs522999	1.00[JPT][hapmap]
rs556888	1.00[JPT][hapmap]
rs55734759	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55738503	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55741554	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55940503	1.00[EUR][1000 genomes]
rs55959166	1.00[EUR][1000 genomes]
rs56281837	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56401576	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56657492	0.82[ASN][1000 genomes]
rs571212	1.00[JPT][hapmap]
rs573056	1.00[JPT][hapmap]
rs57353954	1.00[EUR][1000 genomes]
rs581825	1.00[JPT][hapmap]
rs58351576	1.00[EUR][1000 genomes]
rs58505360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58807475	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59045869	1.00[EUR][1000 genomes]
rs59368083	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59609847	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59774396	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60032869	1.00[EUR][1000 genomes]
rs60046384	1.00[EUR][1000 genomes]
rs60079850	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60497651	0.91[AMR][1000 genomes]
rs60517691	1.00[EUR][1000 genomes]
rs60813039	0.91[AMR][1000 genomes]
rs60868033	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61215181	1.00[EUR][1000 genomes]
rs61252284	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61335636	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61671588	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61729705	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs628714	1.00[JPT][hapmap]
rs637198	1.00[JPT][hapmap]
rs6541348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6541360	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541378	1.00[EUR][1000 genomes]
rs6541398	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs658877	1.00[JPT][hapmap]
rs6663752	0.84[AMR][1000 genomes]
rs6664053	1.00[EUR][1000 genomes]
rs6664190	0.91[AMR][1000 genomes]
rs6667540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6671070	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6675991	0.93[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes]
rs6677114	1.00[ASN][1000 genomes]
rs6677862	1.00[EUR][1000 genomes]
rs6678465	1.00[EUR][1000 genomes]
rs6679304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6679630	1.00[ASN][1000 genomes]
rs6682265	1.00[EUR][1000 genomes]
rs6687167	1.00[EUR][1000 genomes]
rs6688132	1.00[EUR][1000 genomes]
rs6688199	0.91[AMR][1000 genomes]
rs6688513	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs668944	1.00[JPT][hapmap]
rs6689867	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs6691556	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6695142	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6701683	1.00[ASN][1000 genomes]
rs6703963	1.00[EUR][1000 genomes]
rs6704067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72955374	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955379	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955402	0.91[AMR][1000 genomes]
rs72957210	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72957220	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72957300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72959204	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72959216	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959225	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959236	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959238	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959240	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959245	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72959255	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959260	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959267	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72959273	1.00[ASN][1000 genomes]
rs72961310	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961322	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961328	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74101439	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101447	1.00[EUR][1000 genomes]
rs74101453	1.00[EUR][1000 genomes]
rs74101458	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74101464	1.00[EUR][1000 genomes]
rs74101470	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74101603	1.00[EUR][1000 genomes]
rs74104014	0.91[AMR][1000 genomes]
rs74104033	1.00[EUR][1000 genomes]
rs7512471	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518930	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7519163	1.00[JPT][hapmap]
rs7525388	1.00[EUR][1000 genomes]
rs7527459	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7529230	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7530923	1.00[EUR][1000 genomes]
rs7533526	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7537939	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7540960	1.00[ASN][1000 genomes]
rs7544352	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7545154	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7545358	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548629	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs754899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8489	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8561	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324347	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9659202	0.91[AMR][1000 genomes]
rs9662414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93691200-93732400	Weak transcription	HUVEC	blood vessel
4	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:93720000-93762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:93721200-93731400	Weak transcription	NH-A	brain
7	chr1:93724200-93731800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:93725200-93732600	Weak transcription	NHDF-Ad	bronchial
9	chr1:93726400-93730200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:93726400-93731600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:93726400-93731800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr1:93726400-93732000	Weak transcription	Right Ventricle	heart
13	chr1:93726600-93731800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr1:93726600-93731800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr1:93726800-93730400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr1:93726800-93731200	ZNF genes & repeats	GM12878-XiMat	blood
17	chr1:93726800-93731800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr1:93727000-93730400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr1:93727000-93730400	Strong transcription	Fetal Lung	lung
20	chr1:93727000-93731200	ZNF genes & repeats	Dnd41	blood
21	chr1:93727000-93731800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:93727600-93730400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:93727800-93731800	Weak transcription	NHEK	skin
24	chr1:93727800-93741600	Weak transcription	Fetal Kidney	kidney
25	chr1:93728600-93730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:93728600-93731000	Strong transcription	A549	lung
27	chr1:93728600-93731600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:93728600-93738400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:93728600-93741000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:93728600-93741400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:93728600-93751400	Weak transcription	Adipose Nuclei	Adipose
32	chr1:93728600-93754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:93728600-93764400	Weak transcription	Psoas Muscle	Psoas
34	chr1:93728600-93769400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:93728600-93770400	Weak transcription	HSMM	muscle
36	chr1:93728800-93730200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:93728800-93730400	Strong transcription	Fetal Thymus	thymus
38	chr1:93728800-93731000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:93728800-93731200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:93728800-93731200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:93728800-93731200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:93728800-93731600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:93728800-93732200	Weak transcription	HMEC	breast
44	chr1:93728800-93732600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:93728800-93732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:93728800-93736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:93728800-93740200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:93728800-93740400	Weak transcription	Liver	Liver
49	chr1:93728800-93740400	Weak transcription	Fetal Intestine Large	intestine
50	chr1:93728800-93746600	Weak transcription	Aorta	Aorta

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