Variant report

Variant	rs62030411
Chromosome Location	chr15:76868964-76868965
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	chr15:76855877..76857707-chr15:76866696..76869240,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs11072617	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111257	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157780	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166793	0.81[EUR][1000 genomes]
rs16968120	0.91[ASN][1000 genomes]
rs16968160	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968201	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968212	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968215	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968231	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968233	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968242	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968254	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968310	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968311	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968316	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968319	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968335	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968336	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968364	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17462564	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838051	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280006	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280036	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28429680	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28461510	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284908	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573845	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591605	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605733	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28721404	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28808106	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28886726	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743175	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55691654	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55903433	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116678	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381843	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57311619	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58265327	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59195449	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59570104	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59897136	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60963081	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026890	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026892	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026893	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026896	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026900	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026901	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026902	0.84[EUR][1000 genomes]
rs62026904	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026906	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028170	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028171	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028172	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028173	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028174	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028175	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028176	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028177	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028178	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028179	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028180	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028193	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028377	0.83[EUR][1000 genomes]
rs62028381	1.00[ASN][1000 genomes]
rs62028382	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028384	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028386	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028389	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028401	0.89[AMR][1000 genomes]
rs62028402	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028403	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028407	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62028409	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028410	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62028411	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028413	0.87[EUR][1000 genomes]
rs62028416	0.87[EUR][1000 genomes]
rs62028417	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028418	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028419	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028420	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028421	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028422	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028427	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028428	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028430	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028431	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028433	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028436	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028437	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028439	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62028724	0.80[EUR][1000 genomes]
rs62028726	0.80[EUR][1000 genomes]
rs62030360	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030361	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030370	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030371	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030372	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030415	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030416	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030417	1.00[ASN][1000 genomes]
rs62030420	0.86[AFR][1000 genomes]
rs62030424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62030427	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495214	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731731	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74024121	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74024154	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023896	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038119	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038984	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8039601	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8041308	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042889	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542438	chr15:76697056-76892157	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053924	chr15:76803849-77089079	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv471254	chr15:76811390-76978139	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv570021	chr15:76813920-76978139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv570022	chr15:76816015-76978139	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv904401	chr15:76816015-77085283	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1042514	chr15:76838221-76906382	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1042089	chr15:76855098-77016127	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1038233	chr15:76855205-76895763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1037282	chr15:76859309-76895763	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1044453	chr15:76860198-76895763	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1620	chr15:76862152-76914288	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
16	nsv904402	chr15:76863023-76930805	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
17	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1042623	chr15:76863437-76999030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1039269	chr15:76863437-77057021	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1048577	chr15:76868215-76895763	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1051037	chr15:76868215-76902257	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76846000-76869000	Weak transcription	Left Ventricle	heart
2	chr15:76846000-76869000	Weak transcription	Pancreas	Pancrea
3	chr15:76858600-76869000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:76861600-76869200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr15:76861800-76869000	Weak transcription	Colonic Mucosa	Colon
6	chr15:76861800-76869000	Weak transcription	Placenta	Placenta
7	chr15:76862600-76869000	Weak transcription	Right Ventricle	heart
8	chr15:76862600-76872000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:76863000-76869000	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:76865000-76869000	Weak transcription	Gastric	stomach
11	chr15:76865000-76869000	Weak transcription	Psoas Muscle	Psoas
12	chr15:76865200-76869000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:76865200-76869000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:76865200-76869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:76865200-76869200	Weak transcription	Fetal Stomach	stomach
16	chr15:76865400-76869000	Weak transcription	Fetal Lung	lung
17	chr15:76865600-76869000	Weak transcription	Brain Substantia Nigra	brain
18	chr15:76865600-76869000	Weak transcription	A549	lung
19	chr15:76865600-76869000	Weak transcription	HepG2	liver
20	chr15:76865600-76869400	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:76868000-76869000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:76868000-76869600	ZNF genes & repeats	GM12878-XiMat	blood
23	chr15:76868200-76870000	Weak transcription	Primary B cells from cord blood	blood
24	chr15:76868400-76869000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr15:76868400-76869800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:76868400-76870800	Enhancers	Esophagus	oesophagus
27	chr15:76868400-76871000	Enhancers	Ovary	ovary
28	chr15:76868600-76870800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr15:76868800-76869000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr15:76868800-76869000	Enhancers	Stomach Smooth Muscle	stomach
31	chr15:76868800-76869400	Enhancers	Primary T cells from cord blood	blood
32	chr15:76868800-76869400	Flanking Active TSS	Fetal Heart	heart
33	chr15:76868800-76869600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:76868800-76869600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:76868800-76869600	Enhancers	Osteobl	bone
36	chr15:76868800-76869800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:76868800-76869800	Enhancers	Adipose Nuclei	Adipose
38	chr15:76868800-76869800	Enhancers	Fetal Intestine Small	intestine
39	chr15:76868800-76869800	Flanking Active TSS	Hela-S3	cervix
40	chr15:76868800-76870000	Enhancers	Liver	Liver
41	chr15:76868800-76870200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr15:76868800-76870200	Enhancers	Small Intestine	intestine
43	chr15:76868800-76870600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:76868800-76870800	Enhancers	Right Atrium	heart
45	chr15:76868800-76871000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:76868800-76871200	Enhancers	NHEK	skin

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