Variant report

Variant	rs310445
Chromosome Location	chr19:56173551-56173552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56172633-56173590	HepG2	liver:	n/a	n/a
2	SPI1	chr19:56173130-56173644	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:56172674-56173643	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:56173186-56173634	K562	blood:	n/a	n/a
5	ZNF263	chr19:56173105-56173664	HEK293-T-REx	kidney:	n/a	chr19:56173361-56173382 chr19:56173319-56173340
6	POLR2A	chr19:56172909-56173711	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr19:56172664-56173562	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:56173236-56173727	PANC-1	pancreas:	n/a	n/a
9	CTCF	chr19:56173420-56173570	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56152467..56154229-chr19:56171336..56173701,2	MCF-7	breast:
2	chr19:56172318..56174905-chr19:56187838..56190897,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP9-2	chr19:56173267-56173748	ENSG00000267523.1
2	lnc-NLRP9-2	chr19:56173278-56173760	ENSG00000267523.1

Variant related genes	Relation type
U2AF2	TF binding region
ENSG00000213015	Chromatin interaction
ENSG00000063245	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10410404	1.00[CEU][hapmap]
rs10410886	1.00[MEX][hapmap]
rs10420401	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs28449839	0.82[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	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
8	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56167600-56174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:56169200-56173600	Genic enhancers	A549	lung
3	chr19:56169600-56181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:56170000-56181600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:56170000-56181600	Strong transcription	Aorta	Aorta
6	chr19:56170000-56181800	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:56170200-56173800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:56170200-56176000	Strong transcription	Primary hematopoietic stem cells	blood
10	chr19:56170200-56178400	Strong transcription	NHEK	skin
11	chr19:56170200-56181600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:56170200-56181800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:56170200-56182200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:56170200-56182400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:56170200-56182400	Strong transcription	Rectal Smooth Muscle	rectum
16	chr19:56170200-56184000	Strong transcription	Primary T cells from cord blood	blood
17	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
18	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
20	chr19:56170400-56177400	Strong transcription	Fetal Intestine Small	intestine
21	chr19:56170400-56179800	Strong transcription	Hela-S3	cervix
22	chr19:56170400-56181600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:56170400-56181600	Strong transcription	Fetal Muscle Leg	muscle
24	chr19:56170400-56182200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:56170400-56183000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
28	chr19:56170600-56176200	Strong transcription	HUVEC	blood vessel
29	chr19:56170600-56176800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr19:56170600-56177800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:56170600-56178400	Strong transcription	HepG2	liver
32	chr19:56170600-56178600	Strong transcription	Brain Angular Gyrus	brain
33	chr19:56170600-56178800	Strong transcription	Esophagus	oesophagus
34	chr19:56170600-56181600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:56170600-56181600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:56170600-56181600	Strong transcription	Thymus	Thymus
37	chr19:56170600-56182400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:56170600-56182400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr19:56170800-56175800	Strong transcription	Fetal Lung	lung
40	chr19:56170800-56177400	Strong transcription	Gastric	stomach
41	chr19:56170800-56177600	Strong transcription	Right Ventricle	heart
42	chr19:56170800-56178200	Strong transcription	Fetal Intestine Large	intestine
43	chr19:56170800-56179000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr19:56170800-56181600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:56170800-56181600	Strong transcription	Colonic Mucosa	Colon
46	chr19:56170800-56182600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:56170800-56182800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
50	chr19:56170800-56186000	Weak transcription	Right Atrium	heart

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