Variant report

Variant	rs500370
Chromosome Location	chr19:37371563-37371564
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	chr19:37368925..37371871-chr19:37383138..37385642,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10402227	1.00[EUR][1000 genomes]
rs10403877	1.00[EUR][1000 genomes]
rs10410788	1.00[EUR][1000 genomes]
rs10419685	1.00[EUR][1000 genomes]
rs10424415	1.00[EUR][1000 genomes]
rs10426077	1.00[EUR][1000 genomes]
rs10426229	1.00[EUR][1000 genomes]
rs11878527	1.00[EUR][1000 genomes]
rs12459546	1.00[EUR][1000 genomes]
rs2080821	1.00[EUR][1000 genomes]
rs2309220	0.81[EUR][1000 genomes]
rs485256	0.85[AFR][1000 genomes]
rs487318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs491951	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs500244	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs504572	0.89[AFR][1000 genomes]
rs510834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs526426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs529944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs535477	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547831	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs562480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56286503	1.00[EUR][1000 genomes]
rs56838197	1.00[EUR][1000 genomes]
rs57427270	0.81[EUR][1000 genomes]
rs57904468	1.00[EUR][1000 genomes]
rs579731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59122318	1.00[EUR][1000 genomes]
rs7252518	0.81[EUR][1000 genomes]
rs7254717	0.81[EUR][1000 genomes]
rs73612926	0.81[EUR][1000 genomes]
rs73626751	1.00[EUR][1000 genomes]
rs73930869	1.00[EUR][1000 genomes]
rs8105472	0.81[EUR][1000 genomes]
rs826272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304876	1.00[EUR][1000 genomes]
rs9304877	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv458569	chr19:37331614-37412887	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv579462	chr19:37331614-37412887	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37371600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
3	chr19:37344600-37371600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:37346600-37372400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37348800-37372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37357800-37371600	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr19:37359800-37371600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:37360000-37373000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:37360200-37372400	ZNF genes & repeats	Brain Substantia Nigra	brain
12	chr19:37362800-37371600	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr19:37363000-37371600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr19:37363000-37372000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
15	chr19:37363200-37371600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr19:37364400-37371600	ZNF genes & repeats	Ovary	ovary
17	chr19:37365800-37371600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr19:37366000-37371600	ZNF genes & repeats	Fetal Lung	lung
19	chr19:37369200-37374800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:37369400-37380800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:37370200-37371600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:37370200-37371600	ZNF genes & repeats	HSMMtube	muscle
23	chr19:37370400-37371600	ZNF genes & repeats	Aorta	Aorta
24	chr19:37370400-37371600	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr19:37370600-37371600	ZNF genes & repeats	HSMM	muscle
26	chr19:37370800-37371600	ZNF genes & repeats	Left Ventricle	heart
27	chr19:37371000-37371600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:37371000-37371600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:37371000-37371600	ZNF genes & repeats	Pancreas	Pancrea
30	chr19:37371000-37371600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
31	chr19:37371400-37371600	Weak transcription	Fetal Kidney	kidney
32	chr19:37371400-37371600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr19:37371400-37371600	ZNF genes & repeats	Gastric	stomach

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