Variant report

Variant	rs4470301
Chromosome Location	chr2:184862578-184862579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4633887	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434055	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6733634	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002074	chr2:184697897-184955330	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv997475	chr2:184828307-184993186	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1013671	chr2:184830707-184882606	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1012023	chr2:184846782-184890545	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv583991	chr2:184855828-184954425	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184858000-184862800	Enhancers	GM12878-XiMat	blood
2	chr2:184858200-184862800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:184859600-184862600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:184860000-184863000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:184860400-184862600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:184860400-184863200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:184860400-184864400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:184860600-184863800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:184861200-184863200	Weak transcription	Hela-S3	cervix
10	chr2:184861600-184863800	Enhancers	Fetal Intestine Large	intestine
11	chr2:184861600-184864400	Enhancers	Fetal Intestine Small	intestine
12	chr2:184861800-184862600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:184861800-184862800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:184861800-184863000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:184861800-184863800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:184861800-184864200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:184862000-184863200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr2:184862000-184863400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:184862000-184864000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:184862200-184862600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:184862200-184862600	Enhancers	Fetal Heart	heart
22	chr2:184862200-184862800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:184862200-184863000	Enhancers	Colonic Mucosa	Colon
24	chr2:184862400-184862600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:184862400-184862800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:184862400-184863800	Enhancers	Pancreas	Pancrea
27	chr2:184862400-184864400	Enhancers	HUES6 Cell Line	embryonic stem cell

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