Variant report

Variant	rs2216690
Chromosome Location	chr19:37847519-37847520
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	chr19:37838063..37840096-chr19:37846657..37849398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181666	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1016291	0.81[ASN][1000 genomes]
rs11666138	1.00[EUR][1000 genomes]
rs11666602	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11667853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667866	1.00[EUR][1000 genomes]
rs11668217	1.00[EUR][1000 genomes]
rs11668546	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11670245	1.00[YRI][hapmap]
rs11671057	1.00[EUR][1000 genomes]
rs11672033	1.00[ASN][1000 genomes]
rs11672064	1.00[EUR][1000 genomes]
rs16973130	1.00[JPT][hapmap]
rs16973541	1.00[JPT][hapmap]
rs16974848	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1915489	1.00[YRI][hapmap]
rs34169829	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34809375	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4452074	1.00[JPT][hapmap]
rs4483965	1.00[YRI][hapmap]
rs61741499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259638	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8106641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107454	1.00[JPT][hapmap]
rs8108032	1.00[JPT][hapmap]
rs8112900	0.88[ASN][1000 genomes]
rs868096	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv9718	chr19:37839070-37852872	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37826200-37853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37826600-37848800	Weak transcription	Small Intestine	intestine
3	chr19:37826600-37856200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37826600-37861600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:37826800-37852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:37826800-37853400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:37827000-37853400	Weak transcription	Stomach Mucosa	stomach
8	chr19:37828000-37855800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:37830000-37853600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:37830800-37853200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:37832600-37852200	Weak transcription	Fetal Thymus	thymus
12	chr19:37832800-37850800	Weak transcription	HMEC	breast
13	chr19:37832800-37852400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:37834400-37847800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr19:37836800-37852000	Weak transcription	Aorta	Aorta
16	chr19:37837800-37852200	Weak transcription	Right Ventricle	heart
17	chr19:37839000-37847800	Weak transcription	Fetal Muscle Leg	muscle
18	chr19:37839000-37850000	Weak transcription	Spleen	Spleen
19	chr19:37839000-37850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:37839000-37852800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:37839200-37850200	Weak transcription	HepG2	liver
22	chr19:37839200-37851400	Weak transcription	HUVEC	blood vessel
23	chr19:37839600-37853200	Weak transcription	Hela-S3	cervix
24	chr19:37839800-37853600	Weak transcription	Fetal Heart	heart
25	chr19:37840200-37848000	Weak transcription	Osteobl	bone
26	chr19:37840200-37852000	Weak transcription	Esophagus	oesophagus
27	chr19:37840200-37852000	Weak transcription	NHEK	skin
28	chr19:37840200-37852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr19:37840400-37847600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:37840400-37850000	Weak transcription	HSMMtube	muscle
31	chr19:37840400-37850600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:37840400-37853200	Weak transcription	NH-A	brain
33	chr19:37840600-37848400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:37840600-37852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:37840800-37848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:37840800-37852400	Weak transcription	Brain Angular Gyrus	brain
37	chr19:37840800-37853200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:37841000-37852000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:37841200-37851600	Weak transcription	Left Ventricle	heart
40	chr19:37841200-37855200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:37841400-37848200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:37841400-37849000	ZNF genes & repeats	A549	lung
43	chr19:37842000-37850200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:37842400-37849600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:37842600-37850800	Weak transcription	HSMM	muscle
46	chr19:37842600-37855400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr19:37842800-37856600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:37843200-37849600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:37843800-37855800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:37843800-37857600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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