Variant report

Variant	rs3007682
Chromosome Location	chr1:151909539-151909540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151906991..151909574-chr1:152001582..152003967,2	K562	blood:
2	chr1:151903334..151906140-chr1:151909030..151911005,2	K562	blood:
3	chr1:151905903..151909731-chr1:151970506..151972835,3	MCF-7	breast:
4	chr1:151907992..151909592-chr1:151911262..151913092,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1003107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10158030	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[LWK][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs1038746	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1038748	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1048910	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10749666	0.82[AMR][1000 genomes]
rs10788813	1.00[CHB][hapmap]
rs10788814	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10788816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10888449	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10888450	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10888451	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10888453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11204911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204912	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12723616	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs1352654	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1387834	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.83[AFR][1000 genomes]
rs1387835	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap]
rs1473493	0.83[AFR][1000 genomes]
rs1473494	0.83[AFR][1000 genomes]
rs1473495	0.83[AFR][1000 genomes]
rs1490187	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs1490190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1490191	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1496037	1.00[CHB][hapmap]
rs1552605	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1552606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1552607	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs1602245	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1602246	0.83[AMR][1000 genomes]
rs1602248	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs17583707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes]
rs1826170	0.83[AFR][1000 genomes]
rs1826171	0.83[AFR][1000 genomes]
rs1826172	0.81[AFR][1000 genomes]
rs1844542	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1873310	0.82[AMR][1000 genomes]
rs1873311	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs1873312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1967085	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2054948	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2087549	0.90[MEX][hapmap]
rs2087550	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2130526	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2171917	0.81[EUR][1000 genomes]
rs2338018	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs2338200	0.82[AMR][1000 genomes]
rs2338203	1.00[CEU][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2338204	0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2338210	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932563	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs2932564	0.85[AMR][1000 genomes]
rs2932567	1.00[CHB][hapmap]
rs2932578	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2932584	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2932585	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2932588	0.83[AFR][1000 genomes]
rs2932591	0.83[AFR][1000 genomes]
rs2932592	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs2932595	0.83[AFR][1000 genomes]
rs2932596	0.83[AFR][1000 genomes]
rs2932597	0.83[AFR][1000 genomes]
rs2999509	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2999514	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs2999518	0.83[AFR][1000 genomes]
rs2999520	0.83[AFR][1000 genomes]
rs2999522	0.88[AFR][1000 genomes]
rs2999524	0.83[AFR][1000 genomes]
rs2999525	0.83[AFR][1000 genomes]
rs2999527	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs2999529	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.83[AFR][1000 genomes]
rs2999535	1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap]
rs2999538	1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap]
rs2999551	1.00[CHB][hapmap]
rs2999552	1.00[CHB][hapmap]
rs2999555	1.00[CHB][hapmap]
rs2999558	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs3001979	1.00[CHB][hapmap]
rs3007672	1.00[CHB][hapmap]
rs3007676	1.00[CHB][hapmap]
rs3007679	1.00[CHB][hapmap]
rs3007690	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs3007692	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3007693	0.80[AFR][1000 genomes]
rs3007699	0.83[AFR][1000 genomes]
rs3007700	1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.83[AFR][1000 genomes]
rs3007701	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs3007704	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap]
rs3122300	1.00[CHB][hapmap]
rs3122301	1.00[CHB][hapmap]
rs3134814	1.00[CHB][hapmap]
rs34370890	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3748805	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3762427	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4845385	1.00[CHB][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes]
rs4845388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4845393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4845660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845664	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845699	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61113720	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6587626	1.00[CHB][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap]
rs6587627	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6587628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6587630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587641	1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap]
rs6659029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6662463	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6678664	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6690443	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6691350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7529451	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7532721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7541498	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7544380	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7545863	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7552869	0.82[AMR][1000 genomes]
rs902314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs902315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs902316	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959945	1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap]
rs971888	0.83[AFR][1000 genomes]
rs9943225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151906800-151909800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:151907000-151913000	Weak transcription	NHDF-Ad	bronchial
3	chr1:151907000-151914000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:151907000-151917400	Weak transcription	Right Atrium	heart
5	chr1:151907400-151909600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:151907600-151916800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:151907800-151913200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:151908000-151909600	Weak transcription	Hela-S3	cervix
9	chr1:151908000-151912200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:151908000-151913200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:151908000-151913400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:151908000-151913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:151908000-151913400	Weak transcription	NH-A	brain
14	chr1:151908000-151913400	Weak transcription	NHEK	skin
15	chr1:151908000-151913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:151908200-151913000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:151908200-151913600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:151908200-151916600	Weak transcription	Placenta	Placenta
19	chr1:151908200-151917000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:151908400-151909600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:151908400-151913000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:151908600-151909600	Active TSS	Fetal Intestine Large	intestine
23	chr1:151908800-151909800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:151909000-151909600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:151909000-151909600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:151909000-151909600	Active TSS	Duodenum Mucosa	Duodenum
27	chr1:151909000-151909800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:151909000-151913200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:151909200-151909600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:151909200-151909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:151909200-151909600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:151909200-151909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:151909200-151909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:151909200-151909600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:151909200-151909600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:151909200-151909600	Enhancers	Fetal Lung	lung
37	chr1:151909200-151909600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:151909200-151909600	Enhancers	HUVEC	blood vessel
39	chr1:151909200-151909600	Enhancers	K562	blood
40	chr1:151909200-151909600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:151909200-151909800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:151909400-151909600	Enhancers	Liver	Liver
43	chr1:151909400-151909600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr1:151909400-151909600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
45	chr1:151909400-151909600	Enhancers	Small Intestine	intestine
46	chr1:151909400-151909600	Active TSS	A549	lung
47	chr1:151909400-151912800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:151909400-151913600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:151909400-151913600	Weak transcription	Ovary	ovary
50	chr1:151909400-151913600	Weak transcription	Stomach Mucosa	stomach

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