Variant report

Variant	rs28595155
Chromosome Location	chr17:17790134-17790135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17748850..17751713-chr17:17788602..17790581,2	MCF-7	breast:
2	chr17:17784478..17786421-chr17:17786800..17790376,3	MCF-7	breast:
3	chr17:17790122..17792930-chr17:17795392..17799194,3	K562	blood:
4	chr17:17787825..17790342-chr17:17885834..17888273,2	K562	blood:
5	chr17:17658325..17658880-chr17:17790028..17790773,2	MCF-7	breast:
6	chr17:17789580..17791271-chr17:17792564..17794567,2	K562	blood:
7	chr17:17743306..17743854-chr17:17789940..17790453,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16960878	1.00[EUR][1000 genomes]
rs16961971	1.00[EUR][1000 genomes]
rs16961993	1.00[EUR][1000 genomes]
rs16962003	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28528721	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28615278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924814	1.00[EUR][1000 genomes]
rs4924815	1.00[EUR][1000 genomes]
rs4924816	1.00[EUR][1000 genomes]
rs4924818	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4924819	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4925107	1.00[EUR][1000 genomes]
rs4925111	1.00[EUR][1000 genomes]
rs4925113	1.00[EUR][1000 genomes]
rs59019513	1.00[EUR][1000 genomes]
rs59064231	1.00[EUR][1000 genomes]
rs59531660	1.00[EUR][1000 genomes]
rs59754425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60492230	1.00[EUR][1000 genomes]
rs73295666	1.00[EUR][1000 genomes]
rs73979203	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73979206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979207	1.00[EUR][1000 genomes]
rs73979241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979247	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73981070	1.00[EUR][1000 genomes]
rs73981075	1.00[EUR][1000 genomes]
rs73981078	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7405940	1.00[EUR][1000 genomes]
rs8081943	1.00[EUR][1000 genomes]
rs9889565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898044	1.00[EUR][1000 genomes]
rs9899537	1.00[EUR][1000 genomes]
rs9900884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9910488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9944449	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS 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	91 gene(s)	inside rSNPs	diseases
2	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	77 gene(s)	inside rSNPs	diseases
7	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer 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 miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	77 gene(s)	inside rSNPs	diseases
9	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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	77 gene(s)	inside rSNPs	diseases
10	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
11	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
13	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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	74 gene(s)	inside rSNPs	diseases
14	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv907762	chr17:17668071-17802478	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
16	nsv907765	chr17:17682484-17802478	Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS 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	72 gene(s)	inside rSNPs	diseases
17	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17764200-17803000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:17764400-17799600	Weak transcription	A549	lung
3	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17768400-17792200	Weak transcription	GM12878-XiMat	blood
5	chr17:17769200-17804600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:17769400-17792400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:17769600-17795200	Strong transcription	Primary T cells from cord blood	blood
8	chr17:17776400-17803200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:17778200-17796200	Weak transcription	Hela-S3	cervix
10	chr17:17778600-17793400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:17779800-17791400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:17781000-17802600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:17781600-17810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:17782200-17801600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:17782200-17803800	Weak transcription	Stomach Mucosa	stomach
16	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
17	chr17:17782400-17790600	Strong transcription	NHLF	lung
18	chr17:17782600-17796800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:17783000-17802200	Weak transcription	Dnd41	blood
20	chr17:17783000-17808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr17:17783200-17798400	Weak transcription	NH-A	brain
22	chr17:17783600-17790600	Strong transcription	Liver	Liver
23	chr17:17784400-17791200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:17786400-17794600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:17786400-17795000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:17787000-17790200	Enhancers	Fetal Brain Female	brain
27	chr17:17787000-17792600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr17:17787200-17790400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17787200-17791800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:17787400-17790200	Enhancers	HSMMtube	muscle
31	chr17:17787400-17794800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:17787400-17796200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr17:17787600-17791400	Genic enhancers	Brain Hippocampus Middle	brain
34	chr17:17787800-17791000	Strong transcription	Aorta	Aorta
35	chr17:17788000-17790400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:17788000-17797200	Weak transcription	Ovary	ovary
37	chr17:17788200-17790200	Enhancers	Fetal Muscle Trunk	muscle
38	chr17:17788200-17793200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:17788200-17794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:17788200-17796400	Weak transcription	Primary B cells from cord blood	blood
41	chr17:17788400-17790400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:17788400-17790600	Enhancers	Brain Germinal Matrix	brain
43	chr17:17788400-17791400	Weak transcription	NHDF-Ad	bronchial
44	chr17:17788400-17791400	Weak transcription	Osteobl	bone
45	chr17:17788400-17792000	Weak transcription	Pancreas	Pancrea
46	chr17:17788400-17793800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr17:17788600-17790200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr17:17788600-17790200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:17788600-17791400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr17:17788600-17791600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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