Variant report

Variant	rs9908994
Chromosome Location	chr17:17804956-17804957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17803950..17806140-chr17:17808249..17810276,3	MCF-7	breast:
2	chr17:17744210..17746760-chr17:17803236..17805554,2	MCF-7	breast:
3	chr17:17799007..17802197-chr17:17803900..17807230,4	K562	blood:

Extended variants
information (count: 48 )
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]
rs28595155	1.00[AFR][1000 genomes];1.00[AMR][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]
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:7 , 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	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
5	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
6	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
7	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17767600-17807400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:17781600-17810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17782200-17817000	Weak transcription	Fetal Kidney	kidney
4	chr17:17783000-17808200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:17793000-17817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:17795000-17806400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr17:17796600-17805000	Strong transcription	Primary T cells from cord blood	blood
8	chr17:17797000-17817000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:17797600-17822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:17800800-17807800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:17801200-17817200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:17801800-17805000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:17802000-17805800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:17802400-17805600	Weak transcription	Thymus	Thymus
15	chr17:17802400-17806000	Enhancers	Liver	Liver
16	chr17:17802400-17806200	Weak transcription	GM12878-XiMat	blood
17	chr17:17802400-17817000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:17802600-17805600	Enhancers	NHDF-Ad	bronchial
19	chr17:17802600-17808200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr17:17802600-17817600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr17:17802600-17820000	Weak transcription	Primary B cells from cord blood	blood
22	chr17:17802600-17822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:17802800-17805000	Enhancers	Fetal Muscle Leg	muscle
24	chr17:17802800-17806400	Enhancers	Right Atrium	heart
25	chr17:17802800-17806600	Enhancers	Placenta	Placenta
26	chr17:17802800-17808200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:17802800-17812400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr17:17803000-17805000	Enhancers	Fetal Muscle Trunk	muscle
29	chr17:17803000-17806600	Enhancers	Fetal Lung	lung
30	chr17:17803000-17806800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr17:17803000-17808000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr17:17803000-17810200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:17803200-17805200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:17803200-17808800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:17803400-17807800	Enhancers	Fetal Heart	heart
36	chr17:17803600-17805000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:17803600-17805000	Enhancers	HUVEC	blood vessel
38	chr17:17803600-17805000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr17:17803600-17805200	Enhancers	Ovary	ovary
40	chr17:17803600-17806200	Enhancers	HMEC	breast
41	chr17:17803600-17806400	Enhancers	Duodenum Mucosa	Duodenum
42	chr17:17803600-17806600	Enhancers	Spleen	Spleen
43	chr17:17803800-17805000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:17803800-17805000	Enhancers	Brain Cingulate Gyrus	brain
45	chr17:17803800-17805000	Enhancers	Fetal Brain Female	brain
46	chr17:17803800-17805000	Genic enhancers	Fetal Intestine Small	intestine
47	chr17:17803800-17805000	Enhancers	Pancreas	Pancrea
48	chr17:17803800-17805000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr17:17803800-17805000	Enhancers	Rectal Smooth Muscle	rectum
50	chr17:17803800-17805000	Flanking Active TSS	Hela-S3	cervix

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