Variant report

Variant	rs4670751
Chromosome Location	chr2:37889700-37889701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37888781..37890355-chr2:37896503..37898938,2	MCF-7	breast:
2	chr2:37887603..37894024-chr2:37896602..37900502,7	K562	blood:
3	chr2:37887881..37890513-chr2:37893460..37895028,2	K562	blood:
4	chr2:37888261..37891302-chr2:37893460..37895154,3	K562	blood:
5	chr2:37888739..37890489-chr2:37897152..37899856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163171	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10179609	0.97[AFR][1000 genomes]
rs11124597	0.82[ASN][1000 genomes]
rs12615921	0.84[ASN][1000 genomes]
rs17523989	0.86[ASN][1000 genomes]
rs2240985	0.84[ASN][1000 genomes]
rs4670749	0.87[AFR][1000 genomes]
rs4670750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670752	0.98[AFR][1000 genomes]
rs4670758	0.88[ASN][1000 genomes]
rs4670760	0.86[ASN][1000 genomes]
rs61233180	0.85[ASN][1000 genomes]
rs729793	0.84[ASN][1000 genomes]
rs9309014	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv535647	chr2:37874563-38014428	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv998567	chr2:37886244-37910627	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv963145	chr2:37886589-37890735	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
6	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:37879600-37893000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:37879600-37893000	Genic enhancers	Osteobl	bone
10	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:37881200-37890800	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:37881800-37893200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:37881800-37893800	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:37881800-37894200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:37882000-37891400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:37882400-37895400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:37882600-37896600	Weak transcription	Fetal Lung	lung
18	chr2:37882800-37896200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:37882800-37896400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:37883200-37892400	Weak transcription	Fetal Brain Male	brain
21	chr2:37883200-37895400	Weak transcription	Brain Germinal Matrix	brain
22	chr2:37883400-37892000	Weak transcription	Fetal Brain Female	brain
23	chr2:37883400-37896400	Weak transcription	Colonic Mucosa	Colon
24	chr2:37884000-37891000	Enhancers	Colon Smooth Muscle	Colon
25	chr2:37884000-37893000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:37884600-37891800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:37884600-37892800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:37884600-37895000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:37884800-37890000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:37885000-37895600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:37885000-37895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:37885200-37889800	Weak transcription	Thymus	Thymus
33	chr2:37885200-37891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:37885400-37892400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:37885600-37890000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr2:37885800-37895400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:37886000-37890400	Weak transcription	Adipose Nuclei	Adipose
38	chr2:37886000-37890800	Genic enhancers	NHDF-Ad	bronchial
39	chr2:37886000-37892000	Weak transcription	Ovary	ovary
40	chr2:37886000-37897400	Weak transcription	Placenta	Placenta
41	chr2:37886000-37897600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:37886200-37889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:37886200-37890000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:37886200-37891200	Weak transcription	Spleen	Spleen
45	chr2:37886200-37892400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:37886200-37892800	Weak transcription	NHEK	skin
47	chr2:37886200-37895400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:37886400-37889800	Weak transcription	Fetal Thymus	thymus
49	chr2:37886600-37891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:37887000-37890800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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