Variant report

Variant	rs7251872
Chromosome Location	chr19:56163235-56163236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56163138-56163270	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:56163040-56163882	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56109380..56112832-chr19:56163189..56166704,4	K562	blood:
2	chr19:56110522..56112658-chr19:56163189..56166668,4	K562	blood:
3	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:
4	chr19:56134460..56137185-chr19:56162633..56166165,3	K562	blood:
5	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:

No data

Variant related genes	Relation type
U2AF2	TF binding region
ENSG00000179943	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000179922	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs310470	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs310471	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs310474	0.81[EUR][1000 genomes]
rs553947	0.86[ASN][1000 genomes]
rs612211	0.86[ASN][1000 genomes]
rs636466	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs636467	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs644230	0.86[ASN][1000 genomes]
rs7246799	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889091	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
7	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56160000-56165200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:56160200-56165200	Weak transcription	Small Intestine	intestine
3	chr19:56160400-56163400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56160400-56163400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:56160400-56163400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:56160400-56164200	Weak transcription	Psoas Muscle	Psoas
7	chr19:56160400-56164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:56160400-56164400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:56160400-56164400	Weak transcription	NHEK	skin
10	chr19:56160400-56165000	Weak transcription	HSMMtube	muscle
11	chr19:56160400-56165200	Weak transcription	NHDF-Ad	bronchial
12	chr19:56160600-56163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:56160600-56164000	Weak transcription	Fetal Heart	heart
14	chr19:56160600-56164200	Weak transcription	HMEC	breast
15	chr19:56160600-56164400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:56160600-56164600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:56160600-56164600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:56160600-56164600	Weak transcription	Osteobl	bone
19	chr19:56160600-56164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr19:56160800-56163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:56160800-56163600	Weak transcription	Brain Germinal Matrix	brain
22	chr19:56160800-56163600	Weak transcription	Fetal Intestine Large	intestine
23	chr19:56160800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:56160800-56164400	Weak transcription	Hela-S3	cervix
25	chr19:56160800-56164400	Weak transcription	HepG2	liver
26	chr19:56160800-56164600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:56160800-56164600	Strong transcription	NHLF	lung
28	chr19:56160800-56164800	Weak transcription	Fetal Lung	lung
29	chr19:56160800-56165000	Weak transcription	Liver	Liver
30	chr19:56160800-56165200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:56160800-56165200	Weak transcription	Gastric	stomach
32	chr19:56160800-56165200	Weak transcription	Left Ventricle	heart
33	chr19:56160800-56165200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr19:56161000-56163400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:56161000-56163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:56161000-56163400	Weak transcription	A549	lung
37	chr19:56161000-56163800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:56161000-56164200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:56161000-56164200	Strong transcription	Fetal Intestine Small	intestine
40	chr19:56161000-56164400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:56161000-56164400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:56161000-56164600	Weak transcription	Adipose Nuclei	Adipose
43	chr19:56161000-56164600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:56161000-56164600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:56161000-56164800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:56161000-56164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:56161000-56165000	Weak transcription	Primary T cells from cord blood	blood
48	chr19:56161000-56165000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:56161000-56165000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:56161000-56165000	Weak transcription	Fetal Kidney	kidney

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