Variant report

Variant	rs17842485
Chromosome Location	chr19:37432208-37432209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37428613..37430520-chr19:37430554..37432406,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10402227	0.92[ASN][1000 genomes]
rs10403877	0.92[ASN][1000 genomes]
rs10410788	0.92[ASN][1000 genomes]
rs10424415	0.96[ASN][1000 genomes]
rs10426229	0.92[ASN][1000 genomes]
rs1114318	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12459208	0.82[AMR][1000 genomes]
rs12459218	0.82[AMR][1000 genomes]
rs12459377	0.88[AMR][1000 genomes]
rs12459546	0.92[ASN][1000 genomes]
rs12459894	0.88[AMR][1000 genomes]
rs12460098	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12460418	0.82[AMR][1000 genomes]
rs12460420	0.82[AMR][1000 genomes]
rs12460802	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12460821	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12461265	0.82[AMR][1000 genomes]
rs12461280	0.82[AMR][1000 genomes]
rs12461501	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12461738	0.82[AMR][1000 genomes]
rs12462037	0.82[AMR][1000 genomes]
rs12462151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462186	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12462205	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12462400	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12462454	0.82[AMR][1000 genomes]
rs12462471	0.82[AMR][1000 genomes]
rs12462623	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12462629	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12463214	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1521096	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16960966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16971769	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16989369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17239026	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17304758	0.82[AMR][1000 genomes]
rs17721244	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1990964	0.88[AMR][1000 genomes]
rs2305266	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213840	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34051375	0.82[AMR][1000 genomes]
rs35374722	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs35706444	0.82[AMR][1000 genomes]
rs36023046	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3859520	0.88[AMR][1000 genomes]
rs57904468	0.92[ASN][1000 genomes]
rs59122318	0.92[ASN][1000 genomes]
rs73625272	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9304876	0.92[ASN][1000 genomes]
rs9304877	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37408200-37436400	Weak transcription	Fetal Thymus	thymus
2	chr19:37408200-37440600	Weak transcription	Stomach Mucosa	stomach
3	chr19:37408400-37440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:37408600-37439600	Weak transcription	Fetal Heart	heart
5	chr19:37409000-37444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37409000-37447400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:37415800-37444600	ZNF genes & repeats	Liver	Liver
8	chr19:37419400-37447400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37420600-37443000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:37420600-37447400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:37420600-37447600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:37426800-37438200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr19:37427200-37433800	Strong transcription	Dnd41	blood
14	chr19:37427200-37437200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:37427200-37441600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:37427400-37432400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr19:37427400-37432400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
18	chr19:37427400-37432600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:37427400-37432800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:37427400-37432800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:37427400-37437200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:37427400-37437400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:37427600-37432400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:37427600-37432600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:37427600-37432800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr19:37427600-37432800	Strong transcription	NHDF-Ad	bronchial
27	chr19:37427600-37436800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr19:37427800-37434400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:37428200-37433000	Weak transcription	Esophagus	oesophagus
30	chr19:37428200-37433000	Weak transcription	Lung	lung
31	chr19:37428200-37433000	Weak transcription	Thymus	Thymus
32	chr19:37428200-37434400	Strong transcription	HSMM	muscle
33	chr19:37428200-37434800	Strong transcription	Brain Hippocampus Middle	brain
34	chr19:37428200-37435000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:37428200-37435000	Weak transcription	Gastric	stomach
36	chr19:37428400-37433600	Weak transcription	Right Ventricle	heart
37	chr19:37428600-37433800	Weak transcription	Fetal Brain Female	brain
38	chr19:37428800-37436200	Weak transcription	Fetal Muscle Leg	muscle
39	chr19:37428800-37438200	Weak transcription	Brain Germinal Matrix	brain
40	chr19:37429400-37432800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
41	chr19:37429600-37432400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:37429600-37432800	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr19:37429800-37432600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr19:37429800-37433800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:37430200-37435800	Weak transcription	Fetal Brain Male	brain
46	chr19:37430200-37436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:37430200-37436400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:37430200-37438000	Weak transcription	HUVEC	blood vessel
49	chr19:37430400-37432600	Strong transcription	Primary hematopoietic stem cells	blood
50	chr19:37430400-37432600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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