Variant report

Variant	rs1551157
Chromosome Location	chr19:52230553-52230554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:52230508-52231068	U87	brain:	n/a	n/a
2	POLR2A	chr19:52230389-52231097	U87	brain:	n/a	n/a
3	TCF12	chr19:52230536-52231075	A549	lung:	n/a	n/a
4	FOXA2	chr19:52230508-52231179	A549	lung:	n/a	n/a
5	POLR2A	chr19:52230300-52231166	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:207864559..207865301-chr19:52230447..52231080,2	MCF-7	breast:
2	chr19:52213474..52215839-chr19:52229447..52232151,2	K562	blood:
3	chr19:52213474..52218033-chr19:52227253..52233222,6	K562	blood:
4	chr19:52229702..52232519-chr19:52243094..52246090,2	K562	blood:

No data

Variant related genes	Relation type
HAS1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10417548	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11667949	1.00[CHB][hapmap]
rs11672222	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes]
rs12977463	1.00[ASN][1000 genomes]
rs1551156	1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17661268	1.00[ASN][1000 genomes]
rs1993104	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
12	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
13	nsv1059148	chr19:52211749-52359815	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv1057279	chr19:52225513-52350896	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv524403	chr19:52225767-52356791	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv470151	chr19:52225767-52359169	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv458733	chr19:52225767-52359983	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv579997	chr19:52225767-52359983	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv1067301	chr19:52227027-52350054	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1065078	chr19:52227916-52350896	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
21	esv34938	chr19:52227916-52630935	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52227600-52231000	Enhancers	HMEC	breast
2	chr19:52227800-52230800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr19:52228000-52231000	Enhancers	NHDF-Ad	bronchial
4	chr19:52228200-52231000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:52228600-52231000	Enhancers	NHLF	lung
6	chr19:52228600-52231200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:52228600-52233800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:52228800-52231000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:52229000-52231000	Enhancers	NHEK	skin
10	chr19:52229200-52231000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:52229200-52231000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:52229400-52230800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:52229400-52231200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr19:52229400-52231600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:52229400-52231800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:52229400-52232000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:52229600-52230600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
18	chr19:52229600-52230800	Enhancers	Esophagus	oesophagus
19	chr19:52229800-52230800	Enhancers	HSMMtube	muscle
20	chr19:52230000-52231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:52230000-52231000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:52230000-52231600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr19:52230000-52231600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:52230000-52231600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:52230000-52231800	Weak transcription	K562	blood
26	chr19:52230000-52232000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:52230200-52231800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:52230400-52230600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:52230400-52230600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr19:52230400-52230600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:52230400-52230600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr19:52230400-52230800	Bivalent Enhancer	Brain Substantia Nigra	brain
33	chr19:52230400-52230800	Flanking Active TSS	HSMM	muscle
34	chr19:52230400-52230800	Flanking Active TSS	Osteobl	bone

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