Variant report

Variant	rs17304779
Chromosome Location	chr19:37711656-37711657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37711575-37712057	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ZNF585B	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1226597	0.80[ASN][1000 genomes]
rs16972021	1.00[YRI][hapmap]
rs16972024	0.90[CHD][hapmap];0.83[GIH][hapmap]
rs16972028	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2305115	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2921563	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs2972598	1.00[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs3745763	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6508718	1.00[CEU][hapmap]
rs8110164	1.00[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv961287	chr19:37708789-37742224	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37709600-37714800	ZNF genes & repeats	A549	lung
2	chr19:37709800-37718400	Weak transcription	Aorta	Aorta
3	chr19:37710000-37711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:37710000-37716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:37710000-37716000	Weak transcription	Fetal Thymus	thymus
6	chr19:37710000-37717000	Weak transcription	NH-A	brain
7	chr19:37710000-37717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:37710000-37718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:37710000-37720800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:37710000-37721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:37710000-37728600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:37710200-37711800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:37710200-37711800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr19:37710200-37711800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:37710200-37711800	Weak transcription	NHEK	skin
16	chr19:37710200-37711800	Weak transcription	Osteobl	bone
17	chr19:37710200-37712000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:37710200-37712200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:37710200-37712200	Weak transcription	Fetal Intestine Small	intestine
20	chr19:37710200-37712800	Strong transcription	Primary T cells from cord blood	blood
21	chr19:37710200-37712800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:37710200-37713000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:37710200-37713400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:37710200-37713600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:37710200-37713600	Strong transcription	Fetal Stomach	stomach
26	chr19:37710200-37713800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr19:37710200-37714000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:37710200-37714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:37710200-37714000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:37710200-37715200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:37710200-37715400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:37710200-37715400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:37710200-37715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:37710200-37715800	Weak transcription	Brain Anterior Caudate	brain
35	chr19:37710200-37716000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:37710200-37716200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:37710200-37716200	Weak transcription	Brain Germinal Matrix	brain
38	chr19:37710200-37716200	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:37710200-37716200	Weak transcription	Colonic Mucosa	Colon
40	chr19:37710200-37716200	Weak transcription	Fetal Kidney	kidney
41	chr19:37710200-37716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr19:37710200-37716200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:37710200-37716200	Weak transcription	HSMMtube	muscle
44	chr19:37710200-37716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:37710200-37716400	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:37710200-37716800	Weak transcription	Small Intestine	intestine
47	chr19:37710200-37717000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:37710200-37718400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:37710200-37718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:37710200-37718800	Weak transcription	HUVEC	blood vessel

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