Variant report

Variant	rs10817385
Chromosome Location	chr9:115558708-115558709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115552552..115554676-chr9:115556505..115559633,3	MCF-7	breast:
2	chr9:115549006..115551974-chr9:115557854..115560441,2	K562	blood:
3	chr9:115555053..115556635-chr9:115557312..115560299,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10759584	0.95[ASN][1000 genomes]
rs10817380	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10817381	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10817383	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10817387	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817388	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817390	0.92[ASN][1000 genomes]
rs10817393	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10817394	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981497	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10981498	0.87[ASN][1000 genomes]
rs10981500	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10981501	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10981506	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10981510	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10981512	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10981517	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981520	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981524	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981525	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10981527	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11790110	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11792606	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11794186	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12235123	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12685108	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1361719	0.92[ASN][1000 genomes]
rs1361720	0.90[ASN][1000 genomes]
rs1891403	0.85[ASN][1000 genomes]
rs2096185	0.83[ASN][1000 genomes]
rs2645993	0.92[ASN][1000 genomes]
rs2796037	0.82[ASN][1000 genomes]
rs28494060	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4979148	0.95[ASN][1000 genomes]
rs4979150	0.95[ASN][1000 genomes]
rs4979153	0.95[ASN][1000 genomes]
rs4979156	0.88[ASN][1000 genomes]
rs59721032	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7859381	0.95[ASN][1000 genomes]
rs7862183	0.85[ASN][1000 genomes]
rs7863952	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7868830	0.97[ASN][1000 genomes]
rs7872308	0.97[ASN][1000 genomes]
rs787269	0.95[ASN][1000 genomes]
rs787270	0.95[ASN][1000 genomes]
rs787271	0.95[ASN][1000 genomes]
rs787272	0.95[ASN][1000 genomes]
rs787274	0.95[ASN][1000 genomes]
rs787275	0.95[ASN][1000 genomes]
rs787276	0.95[ASN][1000 genomes]
rs787279	0.92[ASN][1000 genomes]
rs787280	0.92[ASN][1000 genomes]
rs787284	0.90[ASN][1000 genomes]
rs787295	0.92[ASN][1000 genomes]
rs787297	0.92[ASN][1000 genomes]
rs787298	0.92[ASN][1000 genomes]
rs787301	0.92[ASN][1000 genomes]
rs813101	0.92[ASN][1000 genomes]
rs9409123	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv515899	chr9:115359049-115593870	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv34346	chr9:115360505-115581453	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038999	chr9:115367078-115590950	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv2757350	chr9:115371397-115594108	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv2761275	chr9:115376461-115590962	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1035169	chr9:115378282-115573581	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1049451	chr9:115378282-115585109	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1047374	chr9:115378282-115590950	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1038306	chr9:115379305-115595695	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv540194	chr9:115379305-115595695	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1051909	chr9:115379505-115588377	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv540195	chr9:115379505-115588377	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv915763	chr9:115379600-115588349	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	esv3693040	chr9:115381164-115578065	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv515121	chr9:115383227-115585827	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1044168	chr9:115383253-115585109	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1048327	chr9:115383253-115589646	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv1044381	chr9:115383253-115590950	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv442163	chr9:115383255-115590578	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	esv35051	chr9:115383332-115573581	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	esv34763	chr9:115383332-115581453	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
24	nsv430090	chr9:115383445-115594445	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1041424	chr9:115389428-115590950	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1047625	chr9:115390759-115587347	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv540196	chr9:115390759-115587347	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv615198	chr9:115397206-115589251	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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 target site	24 gene(s)	inside rSNPs	diseases
30	nsv1051808	chr9:115397891-115590950	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	esv34739	chr9:115409445-115581453	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
32	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115539000-115572800	Weak transcription	Spleen	Spleen
2	chr9:115545400-115570200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:115547200-115569600	Weak transcription	Left Ventricle	heart
4	chr9:115547200-115570000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:115547400-115570000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:115549800-115593600	Weak transcription	Thymus	Thymus
7	chr9:115552000-115569000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:115552000-115580200	Weak transcription	Fetal Stomach	stomach
9	chr9:115552800-115572600	Weak transcription	Adipose Nuclei	Adipose
10	chr9:115552800-115572800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:115552800-115572800	Weak transcription	NHEK	skin
12	chr9:115552800-115593800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:115553000-115582000	Weak transcription	Esophagus	oesophagus
14	chr9:115553600-115579400	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:115554000-115566800	Weak transcription	Fetal Intestine Large	intestine
16	chr9:115555600-115566800	Weak transcription	Primary B cells from cord blood	blood
17	chr9:115555800-115562200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr9:115555800-115566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:115555800-115572000	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:115555800-115572400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:115555800-115572400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:115555800-115573000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:115555800-115581800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr9:115555800-115582000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:115555800-115582000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:115555800-115597400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:115556000-115568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:115556200-115580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:115557600-115559400	Enhancers	Brain Angular Gyrus	brain
30	chr9:115557600-115559400	Enhancers	Brain Substantia Nigra	brain
31	chr9:115557600-115559400	Enhancers	Fetal Heart	heart
32	chr9:115557600-115559600	Enhancers	Brain Hippocampus Middle	brain
33	chr9:115557800-115558800	Enhancers	Lung	lung
34	chr9:115557800-115558800	Enhancers	K562	blood
35	chr9:115557800-115559000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:115557800-115559200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:115557800-115559400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr9:115557800-115559400	Enhancers	Ovary	ovary
39	chr9:115558000-115558800	Enhancers	Fetal Lung	lung
40	chr9:115558000-115559200	Enhancers	Pancreas	Pancrea
41	chr9:115558200-115558800	Enhancers	Aorta	Aorta
42	chr9:115558200-115558800	Enhancers	Brain Anterior Caudate	brain
43	chr9:115558200-115559000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:115558200-115559400	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:115558200-115579200	Weak transcription	Osteobl	bone
46	chr9:115558400-115559000	Enhancers	Right Atrium	heart
47	chr9:115558400-115559200	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:115558400-115572800	Weak transcription	Right Ventricle	heart
49	chr9:115558600-115558800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:115558600-115558800	Enhancers	Gastric	stomach

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