Variant report

Variant	rs12327715
Chromosome Location	chr19:45304061-45304062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45303416..45304388-chr19:45349472..45350115,2	K562	blood:
2	chr19:45192137..45193058-chr19:45303449..45304435,2	K562	blood:
3	chr19:45303472..45304374-chr19:45347688..45348837,4	MCF-7	breast:
4	chr19:45303896..45305467-chr19:45346673..45349585,2	K562	blood:
5	chr19:45303445..45304423-chr19:45348103..45348767,4	K562	blood:
6	chr19:45287770..45288304-chr19:45303491..45304251,2	MCF-7	breast:
7	chr19:45303436..45304427-chr19:45347545..45348932,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1075643	0.89[ASN][1000 genomes]
rs2927477	0.90[ASN][1000 genomes]
rs2965112	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2965113	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2967669	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv912117	chr19:45298069-45322744	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv912118	chr19:45300056-45326664	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284600-45309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
5	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
6	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:45297000-45307200	Weak transcription	Lung	lung
8	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:45298200-45310200	Weak transcription	Gastric	stomach
10	chr19:45299200-45307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:45299200-45310200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
13	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
14	chr19:45302000-45304200	Enhancers	Fetal Muscle Trunk	muscle
15	chr19:45302600-45305600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:45303200-45304200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:45303200-45304200	Genic enhancers	Fetal Intestine Small	intestine
18	chr19:45303200-45304200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr19:45303400-45304200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr19:45303400-45305400	Weak transcription	HMEC	breast
21	chr19:45303600-45304200	Enhancers	Adipose Nuclei	Adipose
22	chr19:45303800-45305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:45303800-45305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:45303800-45307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:45303800-45310600	Weak transcription	Hela-S3	cervix
26	chr19:45304000-45305200	Weak transcription	HepG2	liver
27	chr19:45304000-45305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:45304000-45305400	Weak transcription	A549	lung
29	chr19:45304000-45305400	Weak transcription	NHEK	skin
30	chr19:45304000-45305600	Weak transcription	Liver	Liver
31	chr19:45304000-45305600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr19:45304000-45305600	Weak transcription	Fetal Intestine Large	intestine
33	chr19:45304000-45307000	Weak transcription	Fetal Muscle Leg	muscle
34	chr19:45304000-45307000	Weak transcription	Fetal Stomach	stomach
35	chr19:45304000-45307400	Weak transcription	Spleen	Spleen
36	chr19:45304000-45309800	Weak transcription	Fetal Heart	heart
37	chr19:45304000-45310400	Weak transcription	Esophagus	oesophagus
38	chr19:45304000-45310400	Weak transcription	Pancreas	Pancrea

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