Variant report

Variant	rs4286278
Chromosome Location	chr2:85701425-85701426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
2	chr2:85697443..85708380-chr2:85764609..85769775,19	K562	blood:

Variant related genes	Relation type
ENSG00000266577	Chromatin interaction
ENSG00000168906	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]
rs11678662	0.84[ASN][1000 genomes]
rs13017730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470500	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1867881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35700171	0.92[ASN][1000 genomes]
rs7577642	0.84[AMR][1000 genomes];1.00[EUR][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:36 , 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	chr2:85696400-85702800	Weak transcription	Left Ventricle	heart
3	chr2:85696400-85703200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:85698600-85703000	Weak transcription	Colonic Mucosa	Colon
5	chr2:85698600-85705600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:85698800-85703200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:85699000-85701600	Enhancers	HepG2	liver
8	chr2:85699000-85702400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:85699000-85703000	Weak transcription	Small Intestine	intestine
10	chr2:85699400-85702400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:85699400-85703000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:85699400-85703000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:85699400-85703000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:85699400-85703000	Weak transcription	Osteobl	bone
15	chr2:85699400-85703200	Weak transcription	Esophagus	oesophagus
16	chr2:85699400-85703200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:85699600-85702600	Weak transcription	Liver	Liver
18	chr2:85699800-85703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:85699800-85703000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:85699800-85703000	Weak transcription	HSMM	muscle
21	chr2:85699800-85703200	Weak transcription	A549	lung
22	chr2:85700000-85703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:85700000-85703200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:85700000-85703200	Weak transcription	HMEC	breast
25	chr2:85700200-85703200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:85700400-85705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:85700600-85703200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:85700800-85703000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:85700800-85703000	Weak transcription	NHEK	skin
30	chr2:85700800-85703200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:85700800-85703400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:85700800-85703400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:85701000-85703200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:85701200-85702800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:85701400-85702400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:85701400-85702800	Weak transcription	Fetal Intestine Small	intestine

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