Variant report

Variant	rs1717068
Chromosome Location	chr19:37741793-37741794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37740273..37743128-chr19:37823150..37825762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181666	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11670245	1.00[CHD][hapmap]
rs320884	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs7250855	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	nsv9717	chr19:37721760-37796698	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
2	chr19:37725000-37743600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37736000-37742800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37736800-37742000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:37739400-37741800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37740000-37742000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:37740200-37742000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:37741200-37741800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
9	chr19:37741200-37742800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr19:37741200-37743800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37741200-37744000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37741200-37745600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:37741400-37741800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:37741400-37741800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:37741400-37741800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr19:37741400-37741800	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr19:37741400-37741800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr19:37741400-37742000	Enhancers	Fetal Brain Male	brain
19	chr19:37741400-37742200	Enhancers	Fetal Heart	heart
20	chr19:37741400-37742400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
21	chr19:37741400-37743000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr19:37741400-37743200	Active TSS	Brain Germinal Matrix	brain
23	chr19:37741400-37743200	ZNF genes & repeats	Colonic Mucosa	Colon
24	chr19:37741400-37743200	ZNF genes & repeats	GM12878-XiMat	blood
25	chr19:37741400-37743400	Active TSS	Brain Anterior Caudate	brain
26	chr19:37741400-37743400	Active TSS	Brain Cingulate Gyrus	brain
27	chr19:37741400-37743400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr19:37741400-37743400	Active TSS	Fetal Lung	lung
29	chr19:37741400-37743600	Active TSS	Right Atrium	heart
30	chr19:37741400-37743800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr19:37741400-37743800	Active TSS	Brain Substantia Nigra	brain
32	chr19:37741400-37743800	Active TSS	Fetal Kidney	kidney
33	chr19:37741600-37741800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:37741600-37741800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr19:37741600-37742200	Weak transcription	Left Ventricle	heart
36	chr19:37741600-37743400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:37741600-37743600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:37741600-37743600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:37741600-37743600	ZNF genes & repeats	HSMMtube	muscle
40	chr19:37741600-37749200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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