Variant report

Variant	rs7246433
Chromosome Location	chr19:52092321-52092322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52086597..52088901-chr19:52091114..52092940,2	K562	blood:
2	chr19:52076323..52078140-chr19:52090638..52092844,2	K562	blood:
3	chr19:52076475..52078121-chr19:52092264..52094860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105497	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11883251	0.88[ASN][1000 genomes]
rs1543922	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61736479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
8	nsv579966	chr19:52075622-52131119	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52075800-52096800	Weak transcription	HepG2	liver
2	chr19:52077000-52097000	Weak transcription	Hela-S3	cervix
3	chr19:52086600-52093200	ZNF genes & repeats	K562	blood
4	chr19:52087400-52092600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:52089200-52092600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr19:52091200-52096000	Weak transcription	Pancreas	Pancrea
7	chr19:52091200-52096200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:52091200-52096400	Weak transcription	Brain Substantia Nigra	brain
9	chr19:52091200-52096400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:52091200-52096600	Weak transcription	Right Ventricle	heart
11	chr19:52091200-52096800	Weak transcription	Small Intestine	intestine
12	chr19:52091400-52093200	Weak transcription	Brain Anterior Caudate	brain
13	chr19:52091400-52093600	Weak transcription	Fetal Stomach	stomach
14	chr19:52091400-52094000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:52091400-52094000	Strong transcription	Brain Germinal Matrix	brain
16	chr19:52091400-52094200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:52091400-52096200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:52091400-52096200	Weak transcription	Lung	lung
19	chr19:52091400-52096400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:52091400-52096400	Weak transcription	Brain Angular Gyrus	brain
21	chr19:52091400-52096400	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:52091400-52096400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:52091400-52096400	Weak transcription	Fetal Intestine Large	intestine
24	chr19:52091400-52096400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:52091400-52096400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:52091400-52096600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:52091400-52096600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:52091400-52096600	Weak transcription	Colonic Mucosa	Colon
29	chr19:52091400-52096600	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:52091400-52096800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:52091400-52096800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:52091400-52096800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:52091600-52092600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:52091600-52093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:52091600-52093600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:52091600-52093800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:52091600-52096000	Weak transcription	Placenta	Placenta
38	chr19:52091600-52096200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:52091600-52096200	Weak transcription	Spleen	Spleen
40	chr19:52091600-52096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:52091600-52096400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:52091600-52096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:52091600-52096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:52091600-52096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:52091600-52096400	Weak transcription	Esophagus	oesophagus
46	chr19:52091600-52096400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:52091600-52096400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:52091600-52096400	Weak transcription	Thymus	Thymus
49	chr19:52091600-52096600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:52091600-52096600	Weak transcription	Adipose Nuclei	Adipose

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