Variant report

Variant	rs73627719
Chromosome Location	chr19:37710511-37710512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37662285..37665074-chr19:37707652..37711059,3	K562	blood:
2	chr19:37699250..37701731-chr19:37707688..37710566,5	MCF-7	breast:
3	chr19:37700501..37704644-chr19:37706690..37710773,7	K562	blood:

Variant related genes	Relation type
ENSG00000196967	Chromatin interaction
ENSG00000245680	Chromatin interaction
ENSG00000267360	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs34905469	1.00[AMR][1000 genomes]
rs57138011	0.90[AFR][1000 genomes]
rs58634134	1.00[AMR][1000 genomes]
rs58716620	1.00[AFR][1000 genomes]
rs61047901	0.90[AFR][1000 genomes]
rs61525939	0.90[AFR][1000 genomes]
rs61564855	1.00[AMR][1000 genomes]
rs73620844	1.00[AMR][1000 genomes]
rs73622707	1.00[AMR][1000 genomes]
rs73622717	1.00[AMR][1000 genomes]
rs73622721	1.00[AMR][1000 genomes]
rs73622746	1.00[AMR][1000 genomes]
rs73622786	1.00[AMR][1000 genomes]
rs73622787	1.00[AMR][1000 genomes]
rs73623537	1.00[AMR][1000 genomes]
rs73623558	1.00[AMR][1000 genomes]
rs73623598	1.00[AMR][1000 genomes]
rs73624817	1.00[AMR][1000 genomes]
rs73624829	1.00[AMR][1000 genomes]
rs73624840	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73624842	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73624843	1.00[AMR][1000 genomes]
rs73624844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625250	1.00[AMR][1000 genomes]
rs73625268	1.00[AMR][1000 genomes]
rs73626554	1.00[AMR][1000 genomes]
rs73626570	1.00[AMR][1000 genomes]
rs73627713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627722	1.00[AFR][1000 genomes]
rs73627729	1.00[AFR][1000 genomes]
rs73627740	0.90[AFR][1000 genomes]

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37708800-37710600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
2	chr19:37709200-37710600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr19:37709400-37710600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr19:37709600-37714800	ZNF genes & repeats	A549	lung
5	chr19:37709800-37711400	Enhancers	Spleen	Spleen
6	chr19:37709800-37711400	ZNF genes & repeats	GM12878-XiMat	blood
7	chr19:37709800-37718400	Weak transcription	Aorta	Aorta
8	chr19:37710000-37710600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:37710000-37710600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:37710000-37710600	Genic enhancers	Esophagus	oesophagus
11	chr19:37710000-37710600	Enhancers	Fetal Brain Male	brain
12	chr19:37710000-37710600	Enhancers	Gastric	stomach
13	chr19:37710000-37710600	Enhancers	Lung	lung
14	chr19:37710000-37710600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr19:37710000-37710800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:37710000-37711600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:37710000-37711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:37710000-37716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:37710000-37716000	Weak transcription	Fetal Thymus	thymus
20	chr19:37710000-37717000	Weak transcription	NH-A	brain
21	chr19:37710000-37717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:37710000-37718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:37710000-37720800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:37710000-37721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:37710000-37728600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:37710200-37710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:37710200-37710600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:37710200-37710600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:37710200-37710600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr19:37710200-37710600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:37710200-37710600	Enhancers	Brain Angular Gyrus	brain
32	chr19:37710200-37710600	Enhancers	Brain Cingulate Gyrus	brain
33	chr19:37710200-37710600	Enhancers	Brain Substantia Nigra	brain
34	chr19:37710200-37710600	Enhancers	Placenta	Placenta
35	chr19:37710200-37710600	Enhancers	Left Ventricle	heart
36	chr19:37710200-37710600	Enhancers	Psoas Muscle	Psoas
37	chr19:37710200-37710600	Enhancers	Right Atrium	heart
38	chr19:37710200-37710600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:37710200-37710600	Weak transcription	NHDF-Ad	bronchial
40	chr19:37710200-37710800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr19:37710200-37710800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
42	chr19:37710200-37711000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:37710200-37711000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:37710200-37711000	Genic enhancers	Duodenum Mucosa	Duodenum
45	chr19:37710200-37711000	Genic enhancers	Right Ventricle	heart
46	chr19:37710200-37711200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr19:37710200-37711200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:37710200-37711200	Weak transcription	Fetal Lung	lung
49	chr19:37710200-37711400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:37710200-37711600	Weak transcription	HMEC	breast

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