Variant report

Variant	rs4993940
Chromosome Location	chr2:85703112-85703113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
2	chr2:85697443..85708380-chr2:85764609..85769775,19	K562	blood:
3	chr2:85702779..85705594-chr2:85762118..85763957,2	K562	blood:
4	chr2:85702905..85705679-chr2:85766102..85768193,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction
ENSG00000266577	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10196697	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11883636	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12613508	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470501	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4993939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6714421	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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 miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85696200-85703200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:85696400-85703200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:85698600-85705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:85698800-85703200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:85699400-85703200	Weak transcription	Esophagus	oesophagus
6	chr2:85699400-85703200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:85699800-85703200	Weak transcription	A549	lung
8	chr2:85700000-85703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:85700000-85703200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:85700000-85703200	Weak transcription	HMEC	breast
11	chr2:85700200-85703200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:85700400-85705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:85700600-85703200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:85700800-85703200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:85700800-85703400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:85700800-85703400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:85701000-85703200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:85702400-85704200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:85702600-85703200	Enhancers	Liver	Liver
20	chr2:85702800-85703200	Enhancers	Left Ventricle	heart
21	chr2:85702800-85703400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:85702800-85703600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:85702800-85703600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:85702800-85704200	Enhancers	Fetal Intestine Large	intestine
25	chr2:85702800-85704400	Enhancers	Fetal Intestine Small	intestine
26	chr2:85703000-85703400	Enhancers	Colonic Mucosa	Colon
27	chr2:85703000-85703400	Enhancers	Small Intestine	intestine
28	chr2:85703000-85703400	Enhancers	Osteobl	bone
29	chr2:85703000-85703600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:85703000-85703600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:85703000-85703600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:85703000-85703600	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:85703000-85703600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr2:85703000-85703600	Flanking Active TSS	HepG2	liver
35	chr2:85703000-85703600	Enhancers	HSMM	muscle
36	chr2:85703000-85703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:85703000-85703800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:85703000-85703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:85703000-85704200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:85703000-85704200	Enhancers	NHEK	skin

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