Variant report

Variant	rs9647348
Chromosome Location	chr3:156346928-156346929
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156346639..156349927-chr3:156351146..156353666,3	K562	blood:
2	chr3:156340680..156342377-chr3:156344823..156347090,2	K562	blood:
3	chr3:156346249..156348861-chr3:156392186..156393904,2	MCF-7	breast:
4	chr3:156335907..156337985-chr3:156346780..156349354,2	MCF-7	breast:
5	chr3:156346087..156347803-chr3:156543900..156546820,2	MCF-7	breast:
6	chr3:156327608..156330418-chr3:156345086..156347689,2	MCF-7	breast:
7	chr3:156346319..156347875-chr3:156354876..156356759,2	MCF-7	breast:
8	chr3:156346578..156347326-chr3:156391000..156391947,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243926	Chromatin interaction
ENSG00000197980	Chromatin interaction
ENSG00000163659	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1397192	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs168244	1.00[ASN][1000 genomes]
rs16826288	1.00[CHB][hapmap]
rs17380185	1.00[ASN][1000 genomes]
rs344031	1.00[ASN][1000 genomes]
rs364580	1.00[ASN][1000 genomes]
rs391833	1.00[ASN][1000 genomes]
rs436741	1.00[ASN][1000 genomes]
rs6770093	1.00[CHB][hapmap]
rs6777276	1.00[CHB][hapmap]
rs6797082	1.00[ASN][1000 genomes]
rs73168612	1.00[ASN][1000 genomes]
rs73168615	1.00[ASN][1000 genomes]
rs7648656	1.00[CHB][hapmap]
rs816546	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 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	chr3:156339200-156347800	Weak transcription	Esophagus	oesophagus
2	chr3:156343600-156349600	Enhancers	NHEK	skin
3	chr3:156344200-156347000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:156344200-156347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:156344400-156350200	Weak transcription	K562	blood
6	chr3:156345400-156347000	Enhancers	HepG2	liver
7	chr3:156345400-156349600	Enhancers	HMEC	breast
8	chr3:156345600-156347800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:156345600-156349600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:156345600-156349600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:156345600-156350600	Enhancers	HSMMtube	muscle
12	chr3:156345800-156347400	Enhancers	Fetal Intestine Large	intestine
13	chr3:156345800-156347600	Enhancers	Fetal Intestine Small	intestine
14	chr3:156345800-156348600	Enhancers	Hela-S3	cervix
15	chr3:156345800-156349600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:156346000-156347200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:156346000-156348000	Enhancers	Stomach Mucosa	stomach
18	chr3:156346000-156349400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:156346000-156349400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:156346000-156349600	Enhancers	Osteobl	bone
21	chr3:156346000-156349800	Enhancers	HSMM	muscle
22	chr3:156346200-156347200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:156346200-156347400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:156346200-156347600	Weak transcription	NH-A	brain
25	chr3:156346200-156347800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:156346400-156347200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:156346400-156347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:156346400-156347400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr3:156346400-156347400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:156346400-156347600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:156346400-156348400	Weak transcription	Fetal Kidney	kidney
32	chr3:156346600-156347200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:156346600-156347600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr3:156346600-156347800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:156346600-156348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:156346600-156350800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:156346800-156347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:156346800-156350000	Weak transcription	Fetal Heart	heart

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