Variant report

Variant	rs636467
Chromosome Location	chr19:56161913-56161914
allele	A/T
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	chr19:56161906-56162134	K562	blood:	n/a	n/a
2	POLR2A	chr19:56161362-56161973	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56161626..56162436-chr4:16357679..16358532,2	MCF-7	breast:
2	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11545669	1.00[AFR][1000 genomes]
rs310439	1.00[AFR][1000 genomes]
rs310443	1.00[AFR][1000 genomes]
rs310470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310474	1.00[EUR][1000 genomes]
rs507498	0.83[EUR][1000 genomes]
rs520125	0.83[ASN][1000 genomes]
rs522669	0.83[ASN][1000 genomes]
rs553947	1.00[ASN][1000 genomes]
rs56038728	1.00[AFR][1000 genomes]
rs57063593	0.83[EUR][1000 genomes]
rs581023	0.84[EUR][1000 genomes]
rs600106	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs612211	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630491	1.00[AFR][1000 genomes]
rs636466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637788	0.89[EUR][1000 genomes]
rs644230	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679577	0.83[EUR][1000 genomes]
rs680444	0.83[EUR][1000 genomes]
rs681433	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7246799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251872	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889091	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv912503	chr19:56149077-56162776	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
8	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
9	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56160000-56162000	Flanking Active TSS	GM12878-XiMat	blood
2	chr19:56160000-56162800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:56160000-56165200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56160200-56165200	Weak transcription	Small Intestine	intestine
5	chr19:56160400-56162400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:56160400-56163200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:56160400-56163400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:56160400-56163400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:56160400-56163400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:56160400-56164200	Weak transcription	Psoas Muscle	Psoas
11	chr19:56160400-56164400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:56160400-56164400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:56160400-56164400	Weak transcription	NHEK	skin
14	chr19:56160400-56165000	Weak transcription	HSMMtube	muscle
15	chr19:56160400-56165200	Weak transcription	NHDF-Ad	bronchial
16	chr19:56160600-56162000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:56160600-56162200	Weak transcription	NH-A	brain
18	chr19:56160600-56163200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:56160600-56163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:56160600-56164000	Weak transcription	Fetal Heart	heart
21	chr19:56160600-56164200	Weak transcription	HMEC	breast
22	chr19:56160600-56164400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:56160600-56164600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:56160600-56164600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:56160600-56164600	Weak transcription	Osteobl	bone
26	chr19:56160600-56164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:56160800-56162400	Weak transcription	Esophagus	oesophagus
28	chr19:56160800-56163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:56160800-56163400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:56160800-56163600	Weak transcription	Brain Germinal Matrix	brain
31	chr19:56160800-56163600	Weak transcription	Fetal Intestine Large	intestine
32	chr19:56160800-56164200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:56160800-56164400	Weak transcription	Hela-S3	cervix
34	chr19:56160800-56164400	Weak transcription	HepG2	liver
35	chr19:56160800-56164600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:56160800-56164600	Strong transcription	NHLF	lung
37	chr19:56160800-56164800	Weak transcription	Fetal Lung	lung
38	chr19:56160800-56165000	Weak transcription	Liver	Liver
39	chr19:56160800-56165200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:56160800-56165200	Weak transcription	Gastric	stomach
41	chr19:56160800-56165200	Weak transcription	Left Ventricle	heart
42	chr19:56160800-56165200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:56161000-56162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:56161000-56162000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:56161000-56162000	Enhancers	K562	blood
46	chr19:56161000-56162200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:56161000-56162400	Weak transcription	Fetal Brain Female	brain
48	chr19:56161000-56163200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:56161000-56163400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:56161000-56163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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