Variant report

Variant	rs6749372
Chromosome Location	chr2:46781948-46781949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46780336..46782710-chr2:46791524..46793120,2	K562	blood:
2	chr2:46774785..46776728-chr2:46780493..46783223,2	MCF-7	breast:
3	chr2:46769633..46771937-chr2:46780333..46785033,5	MCF-7	breast:
4	chr2:46780322..46782811-chr2:46783470..46785498,2	K562	blood:
5	chr2:46769168..46772138-chr2:46777700..46782112,5	MCF-7	breast:
6	chr2:46688652..46689180-chr2:46781896..46782657,2	K562	blood:

Variant related genes	Relation type
ENSG00000250565	Chromatin interaction
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11903907	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13404342	0.86[EUR][1000 genomes]
rs1456010	0.82[ASN][1000 genomes]
rs17035272	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1809087	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59823825	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60199254	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6735530	0.86[ASN][1000 genomes]
rs72875696	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591561	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs962467	0.93[EUR][1000 genomes]
rs9808496	0.98[EUR][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	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv9713	chr2:46775356-46790566	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46771400-46789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:46771400-46796000	Weak transcription	Fetal Kidney	kidney
4	chr2:46771800-46782000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:46771800-46782400	Weak transcription	HMEC	breast
6	chr2:46771800-46795600	Weak transcription	Fetal Brain Male	brain
7	chr2:46772000-46782600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:46772200-46804000	Weak transcription	NH-A	brain
9	chr2:46773200-46806000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:46774400-46782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:46774800-46789200	Weak transcription	Pancreas	Pancrea
12	chr2:46775200-46782400	Weak transcription	Fetal Lung	lung
13	chr2:46775200-46787200	Weak transcription	Gastric	stomach
14	chr2:46775200-46788600	Weak transcription	A549	lung
15	chr2:46775400-46782600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
17	chr2:46776400-46784800	Weak transcription	Dnd41	blood
18	chr2:46776400-46789000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:46776600-46782400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:46776600-46784800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:46776600-46785000	Weak transcription	Liver	Liver
22	chr2:46776600-46785200	Weak transcription	Small Intestine	intestine
23	chr2:46776600-46786000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:46776600-46789000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:46776800-46794600	Weak transcription	Ovary	ovary
26	chr2:46777000-46782200	Weak transcription	Esophagus	oesophagus
27	chr2:46777000-46783400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:46777000-46785000	Weak transcription	HSMM	muscle
29	chr2:46777000-46788600	Weak transcription	Colonic Mucosa	Colon
30	chr2:46777000-46788800	Weak transcription	HSMMtube	muscle
31	chr2:46777000-46789200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:46777600-46785200	Weak transcription	Fetal Intestine Large	intestine
33	chr2:46778200-46782000	Weak transcription	GM12878-XiMat	blood
34	chr2:46778400-46782400	Weak transcription	Placenta	Placenta
35	chr2:46778400-46788600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:46778600-46782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:46778600-46784800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:46778600-46786000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:46778800-46783000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:46779000-46790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:46779000-46790600	Weak transcription	K562	blood
42	chr2:46779400-46782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:46779600-46782400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:46779800-46782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:46779800-46788400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:46779800-46794600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:46780000-46782200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:46780000-46782400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:46780000-46782400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:46780000-46783800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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