Variant report

Variant	rs56341634
Chromosome Location	chr19:19428808-19428809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19409469..19413871-chr19:19428728..19432308,7	K562	blood:
2	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
3	chr19:19423866..19426693-chr19:19428690..19430948,2	MCF-7	breast:
4	chr19:19424971..19429019-chr19:19429642..19432591,7	K562	blood:
5	chr19:19413265..19416143-chr19:19426604..19429701,3	K562	blood:

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10411387	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426732	1.00[AMR][1000 genomes]
rs28539064	1.00[AMR][1000 genomes]
rs55948436	1.00[AMR][1000 genomes]
rs60327356	1.00[AMR][1000 genomes]
rs7258488	1.00[AMR][1000 genomes]
rs73922845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922902	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19384400-19430600	Weak transcription	Right Atrium	heart
2	chr19:19388000-19429000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:19390800-19430000	Weak transcription	Psoas Muscle	Psoas
4	chr19:19404200-19429000	Strong transcription	Fetal Stomach	stomach
5	chr19:19416200-19430000	Weak transcription	Fetal Brain Male	brain
6	chr19:19419400-19429400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:19419600-19429600	Weak transcription	Hela-S3	cervix
8	chr19:19419600-19430200	Weak transcription	NH-A	brain
9	chr19:19421400-19429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:19421400-19430200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:19421400-19430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:19421600-19429400	Weak transcription	Stomach Mucosa	stomach
13	chr19:19421600-19430000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:19421600-19430000	Weak transcription	A549	lung
15	chr19:19421600-19430000	Weak transcription	HMEC	breast
16	chr19:19421600-19430000	Weak transcription	HSMMtube	muscle
17	chr19:19421600-19430200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:19421800-19429600	Weak transcription	Small Intestine	intestine
19	chr19:19421800-19430200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:19423400-19429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:19423400-19429400	Weak transcription	GM12878-XiMat	blood
22	chr19:19424200-19430000	Weak transcription	Fetal Kidney	kidney
23	chr19:19425600-19430000	Weak transcription	HSMM	muscle
24	chr19:19426600-19430200	Weak transcription	NHDF-Ad	bronchial
25	chr19:19427200-19429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:19427200-19430000	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:19427200-19430000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:19427200-19430200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:19427200-19430200	Weak transcription	Esophagus	oesophagus
30	chr19:19427400-19429200	Weak transcription	Gastric	stomach
31	chr19:19427400-19429400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:19427400-19429400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:19427400-19429400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:19427400-19429400	Weak transcription	Liver	Liver
35	chr19:19427400-19429400	Weak transcription	Brain Anterior Caudate	brain
36	chr19:19427400-19429400	Weak transcription	Brain Substantia Nigra	brain
37	chr19:19427400-19429600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:19427400-19429600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr19:19427400-19429600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:19427400-19429600	Weak transcription	Lung	lung
41	chr19:19427400-19429600	Weak transcription	Right Ventricle	heart
42	chr19:19427400-19429800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:19427400-19429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:19427400-19429800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:19427400-19429800	Weak transcription	Fetal Lung	lung
46	chr19:19427400-19429800	Weak transcription	Pancreas	Pancrea
47	chr19:19427400-19429800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:19427400-19430000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:19427400-19430000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:19427400-19430000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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