Variant report

Variant	rs8065896
Chromosome Location	chr17:37544184-37544185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12946620	1.00[AFR][1000 genomes]
rs12949811	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs35319107	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs71369744	0.88[AFR][1000 genomes]
rs71369745	0.88[AFR][1000 genomes]
rs71369751	0.87[AFR][1000 genomes]
rs71369761	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
4	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
6	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
7	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
8	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
11	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
13	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
14	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37498800-37556400	Weak transcription	Thymus	Thymus
2	chr17:37514800-37556200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:37515400-37555600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:37517600-37555200	Weak transcription	Brain Germinal Matrix	brain
5	chr17:37517600-37556600	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:37518000-37554800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:37521200-37544400	Weak transcription	Placenta	Placenta
8	chr17:37522600-37546800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:37522600-37555400	Weak transcription	Fetal Lung	lung
10	chr17:37522600-37556200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:37522800-37554800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:37522800-37555400	Weak transcription	Adipose Nuclei	Adipose
13	chr17:37522800-37556400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:37523200-37546800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr17:37523400-37556200	Weak transcription	Ovary	ovary
16	chr17:37523600-37555800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:37530200-37555600	Weak transcription	Primary T cells from cord blood	blood
18	chr17:37533000-37546600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:37533200-37548200	Weak transcription	Left Ventricle	heart
20	chr17:37533200-37556200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:37533200-37556600	Weak transcription	Pancreas	Pancrea
22	chr17:37534200-37546600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:37534200-37548800	Weak transcription	Spleen	Spleen
24	chr17:37534200-37556200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:37534400-37546200	Weak transcription	Esophagus	oesophagus
26	chr17:37534400-37555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:37534400-37555800	Weak transcription	Hela-S3	cervix
28	chr17:37534400-37556200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:37534600-37554800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr17:37534800-37551800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:37535000-37548400	Weak transcription	Small Intestine	intestine
32	chr17:37536000-37553600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:37536800-37544400	Weak transcription	Liver	Liver
34	chr17:37536800-37546400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:37536800-37556000	Weak transcription	Brain Anterior Caudate	brain
36	chr17:37537000-37555600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:37537000-37556200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:37537000-37556200	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:37537200-37544200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr17:37537600-37552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:37538800-37555600	Weak transcription	Primary B cells from cord blood	blood
42	chr17:37539200-37556800	Weak transcription	Gastric	stomach
43	chr17:37539800-37547000	Weak transcription	HepG2	liver
44	chr17:37540200-37544600	Strong transcription	Fetal Stomach	stomach
45	chr17:37541200-37544600	Strong transcription	Fetal Thymus	thymus
46	chr17:37541400-37546800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:37541400-37555600	Weak transcription	Brain Angular Gyrus	brain
48	chr17:37541600-37556800	Weak transcription	Lung	lung
49	chr17:37541600-37557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:37542200-37550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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