Variant report

Variant	rs8042605
Chromosome Location	chr15:34604743-34604744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:34604738-34604833	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:34543302..34545799-chr15:34603176..34605145,2	K562	blood:
2	chr15:34603925..34606336-chr15:34608232..34610231,2	K562	blood:
3	chr15:34604526..34606591-chr15:34629720..34631424,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207091	TF binding region
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10152189	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10152222	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10152351	0.90[AFR][1000 genomes]
rs10152407	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10162625	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10467958	0.92[AFR][1000 genomes]
rs10467959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10468070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12324422	0.90[AFR][1000 genomes]
rs12324469	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13379654	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13380356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958911	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16958950	0.94[AFR][1000 genomes]
rs2615359	1.00[EUR][1000 genomes]
rs2705349	1.00[EUR][1000 genomes]
rs2705350	1.00[EUR][1000 genomes]
rs28442188	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28543997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664278	0.83[AFR][1000 genomes]
rs28762482	0.94[AFR][1000 genomes]
rs28807170	0.94[AFR][1000 genomes]
rs28857572	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28871951	0.94[AFR][1000 genomes]
rs347815	1.00[EUR][1000 genomes]
rs56964418	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57044113	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57573060	0.90[AFR][1000 genomes]
rs58198195	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59662878	0.94[AFR][1000 genomes]
rs60708162	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61659679	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6495649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495651	0.94[AFR][1000 genomes]
rs6495652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495653	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495657	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6495658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165738	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7165973	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7166559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167363	0.90[AFR][1000 genomes]
rs7167379	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168029	0.90[AFR][1000 genomes]
rs7168168	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168361	0.94[AFR][1000 genomes]
rs7168606	0.90[AFR][1000 genomes]
rs7168707	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7169802	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170829	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175736	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183736	0.90[AFR][1000 genomes]
rs8023999	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8024424	0.98[AFR][1000 genomes]
rs8024443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8026499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8029788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8030737	0.90[AFR][1000 genomes]
rs8032579	0.94[AFR][1000 genomes]
rs8033545	0.88[AFR][1000 genomes]
rs8035044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036094	0.84[AFR][1000 genomes]
rs8038493	0.90[AFR][1000 genomes]
rs8039233	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8039356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806767	0.98[AFR][1000 genomes]
rs9806778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9989297	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv469547	chr15:34594557-34757807	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
16	nsv482528	chr15:34594557-34757807	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
17	esv1817014	chr15:34598601-34911177	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	esv1817924	chr15:34598601-34911177	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
19	esv1847172	chr15:34598601-34911177	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
20	esv1802396	chr15:34598601-34988247	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	esv1809360	chr15:34598601-34988247	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	esv1844776	chr15:34598601-34988247	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
23	nsv427957	chr15:34598601-34988247	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
3	chr15:34577600-34608800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:34577600-34610200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:34577800-34608800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:34578200-34606800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:34582600-34609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:34582600-34610200	Weak transcription	Fetal Lung	lung
9	chr15:34583400-34609600	Weak transcription	Adipose Nuclei	Adipose
10	chr15:34583800-34610600	Weak transcription	Pancreas	Pancrea
11	chr15:34585000-34609600	Weak transcription	Spleen	Spleen
12	chr15:34585000-34610600	Weak transcription	Lung	lung
13	chr15:34585200-34609600	Weak transcription	Fetal Stomach	stomach
14	chr15:34585200-34615600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:34585400-34608600	Weak transcription	Liver	Liver
16	chr15:34585800-34610400	Weak transcription	Ovary	ovary
17	chr15:34586600-34609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:34587000-34610200	Weak transcription	Fetal Intestine Small	intestine
19	chr15:34589800-34610600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr15:34590000-34609000	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:34590000-34610400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:34590000-34610600	Weak transcription	Small Intestine	intestine
23	chr15:34592200-34608400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:34593000-34610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:34593600-34605400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:34593800-34609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:34594000-34607000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:34594000-34609400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:34594000-34610600	Weak transcription	Gastric	stomach
30	chr15:34594400-34605800	Weak transcription	Fetal Heart	heart
31	chr15:34596000-34610200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:34596400-34610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:34597400-34610000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:34597400-34610000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:34597400-34610200	Weak transcription	NHLF	lung
36	chr15:34597600-34606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:34597600-34606600	Weak transcription	Osteobl	bone
38	chr15:34597800-34606600	Weak transcription	HepG2	liver
39	chr15:34598400-34607000	Weak transcription	Brain Angular Gyrus	brain
40	chr15:34598600-34610800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:34598800-34609600	Weak transcription	Left Ventricle	heart
42	chr15:34598800-34609600	Weak transcription	Right Ventricle	heart
43	chr15:34599000-34605800	Weak transcription	Aorta	Aorta
44	chr15:34599200-34610400	Weak transcription	Fetal Thymus	thymus
45	chr15:34600000-34608600	Weak transcription	Hela-S3	cervix
46	chr15:34600600-34607200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:34600600-34610600	Weak transcription	Psoas Muscle	Psoas
48	chr15:34601200-34608400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:34601800-34607000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:34602400-34610400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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