Variant report

Variant	rs7255180
Chromosome Location	chr19:36640319-36640320
allele	C/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	STAT3	chr19:36640210-36640410	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr19:36640315-36640452	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000270760	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1049339	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12974966	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13344409	0.95[EUR][1000 genomes]
rs17878680	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34386841	1.00[MEX][hapmap]
rs34859504	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71354119	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911644	chr19:36628463-36643695	Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv911646	chr19:36629631-36643695	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr19:36632600-36641800	Strong transcription	Fetal Thymus	thymus
2	chr19:36632800-36641000	Strong transcription	Fetal Lung	lung
3	chr19:36632800-36641000	Weak transcription	Right Atrium	heart
4	chr19:36632800-36641200	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr19:36632800-36641400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:36632800-36641400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:36632800-36641600	Strong transcription	NHLF	lung
8	chr19:36632800-36642000	Strong transcription	Fetal Intestine Small	intestine
9	chr19:36632800-36642200	Strong transcription	Brain Substantia Nigra	brain
10	chr19:36632800-36643000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:36632800-36644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:36633000-36640600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr19:36633000-36640800	Strong transcription	Placenta	Placenta
15	chr19:36633000-36640800	Strong transcription	HSMM	muscle
16	chr19:36633000-36641000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:36633000-36641000	Weak transcription	Fetal Heart	heart
18	chr19:36633000-36641600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:36633000-36641600	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr19:36633000-36641800	Strong transcription	Adipose Nuclei	Adipose
21	chr19:36633000-36641800	Strong transcription	Brain Anterior Caudate	brain
22	chr19:36633000-36642200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:36633000-36642200	Strong transcription	Fetal Intestine Large	intestine
24	chr19:36633000-36642200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr19:36633000-36642200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr19:36633000-36642400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:36633000-36642400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:36633000-36642400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:36633000-36642400	Strong transcription	Dnd41	blood
30	chr19:36633000-36642600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:36633000-36642600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:36633000-36642600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr19:36633000-36643000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:36633000-36643200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr19:36633000-36644800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:36633000-36645600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:36633000-36645600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:36633000-36645600	Strong transcription	A549	lung
39	chr19:36633200-36640600	Strong transcription	Aorta	Aorta
40	chr19:36633200-36640600	Strong transcription	Esophagus	oesophagus
41	chr19:36633200-36641000	Strong transcription	Left Ventricle	heart
42	chr19:36633200-36641400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr19:36633200-36641600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr19:36633200-36641600	Strong transcription	Colon Smooth Muscle	Colon
45	chr19:36633200-36641600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:36633200-36641600	Strong transcription	Stomach Smooth Muscle	stomach
47	chr19:36633200-36641600	Strong transcription	Osteobl	bone
48	chr19:36633200-36641800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:36633200-36641800	Strong transcription	HSMMtube	muscle
50	chr19:36633200-36641800	Strong transcription	HUVEC	blood vessel

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