Variant report

Variant	rs56037070
Chromosome Location	chr2:64715338-64715339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:64714847..64715809-chr2:64750014..64750578,3	MCF-7	breast:
2	chr2:64557634..64558668-chr2:64714284..64715769,8	K562	blood:
3	chr2:64715014..64715759-chr2:64788781..64789445,2	K562	blood:
4	chr2:64558018..64559052-chr2:64714820..64715439,4	MCF-7	breast:
5	chr2:64714821..64715673-chr2:65092358..65093217,2	K562	blood:
6	chr2:64276554..64277338-chr2:64714834..64715814,5	K562	blood:
7	chr2:64587180..64587751-chr2:64714896..64715586,2	MCF-7	breast:
8	chr2:64680498..64683118-chr2:64714362..64716799,3	MCF-7	breast:
9	chr2:64710045..64711795-chr2:64715270..64716791,2	MCF-7	breast:
10	chr2:64276548..64277184-chr2:64715251..64715769,2	MCF-7	breast:
11	chr2:64587206..64587798-chr2:64714856..64715793,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119862	Chromatin interaction
ENSG00000223935	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72812016	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv834245	chr2:64623049-64816185	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 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	chr2:64706600-64715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:64706800-64721200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:64710200-64715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64710200-64715400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:64710400-64715400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:64710400-64715400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:64711000-64719600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:64711200-64719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:64712200-64715800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:64712200-64716000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:64712600-64716000	Weak transcription	Esophagus	oesophagus
12	chr2:64713200-64715400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:64713400-64715400	Weak transcription	Stomach Mucosa	stomach
14	chr2:64713400-64716400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:64713600-64715400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:64713600-64716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:64713800-64715400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:64713800-64719200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:64714400-64715400	Weak transcription	HMEC	breast
20	chr2:64714400-64715600	Enhancers	Fetal Thymus	thymus
21	chr2:64714600-64715800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:64714600-64716200	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:64714600-64718000	Weak transcription	NHEK	skin
24	chr2:64714800-64715400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:64714800-64715600	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:64714800-64715600	Enhancers	Fetal Intestine Large	intestine
27	chr2:64714800-64715600	Enhancers	Fetal Lung	lung
28	chr2:64714800-64715800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:64714800-64716000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:64714800-64716400	Enhancers	Spleen	Spleen
31	chr2:64714800-64717400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:64715000-64715600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:64715000-64715600	Enhancers	Liver	Liver
34	chr2:64715200-64715400	Bivalent/Poised TSS	HepG2	liver
35	chr2:64715200-64716800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:64715200-64716800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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