Variant report

Variant	rs16960835
Chromosome Location	chr17:17960011-17960012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17940893..17944721-chr17:17958076..17961039,3	K562	blood:
2	chr17:17959233..17960130-chr17:17990635..17991408,3	MCF-7	breast:
3	chr17:17959821..17961989-chr17:17966641..17969324,2	K562	blood:

Variant related genes	Relation type
ENSG00000141034	Chromatin interaction
ENSG00000108591	Chromatin interaction
ENSG00000171953	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16960870	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17732024	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs17804843	1.00[AFR][1000 genomes]
rs4925118	1.00[AFR][1000 genomes]
rs9911890	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription 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 target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17944400-17961800	Weak transcription	Fetal Kidney	kidney
5	chr17:17944400-17962000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:17945200-17965200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17945400-17967200	Weak transcription	Small Intestine	intestine
9	chr17:17947000-17974400	Weak transcription	Fetal Heart	heart
10	chr17:17947400-17963400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:17948600-17964400	Weak transcription	K562	blood
12	chr17:17950000-17974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:17950800-17974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:17951000-17962000	Weak transcription	Colonic Mucosa	Colon
15	chr17:17951000-17965600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:17952600-17960600	Strong transcription	Fetal Thymus	thymus
17	chr17:17953000-17960400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:17953400-17970000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:17953600-17966000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:17954000-17968600	Weak transcription	Psoas Muscle	Psoas
21	chr17:17954200-17974200	Weak transcription	Fetal Brain Male	brain
22	chr17:17954800-17974200	Weak transcription	Stomach Mucosa	stomach
23	chr17:17955200-17963000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:17955400-17960600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:17955600-17960400	Strong transcription	A549	lung
26	chr17:17955600-17960600	Strong transcription	Fetal Intestine Large	intestine
27	chr17:17955600-17960600	Strong transcription	Fetal Stomach	stomach
28	chr17:17955600-17960600	Strong transcription	Thymus	Thymus
29	chr17:17955600-17963200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:17955600-17963200	Strong transcription	Dnd41	blood
31	chr17:17955600-17969400	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:17955600-17969800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:17955600-17970600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr17:17955600-17971200	Strong transcription	Liver	Liver
35	chr17:17956600-17960200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:17956600-17960600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:17956600-17970800	Strong transcription	Fetal Intestine Small	intestine
38	chr17:17956800-17960200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:17956800-17960400	Strong transcription	Placenta	Placenta
40	chr17:17956800-17960600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:17956800-17960600	Strong transcription	Brain Germinal Matrix	brain
42	chr17:17956800-17963000	Strong transcription	Primary T cells from cord blood	blood
43	chr17:17956800-17963000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:17956800-17969400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:17956800-17969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:17956800-17969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr17:17957000-17960200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:17957000-17960600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr17:17957000-17960600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:17957000-17960600	Strong transcription	Fetal Lung	lung

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