Variant report

Variant	rs13025552
Chromosome Location	chr2:178197867-178197868
allele	C/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178127878..178129847-chr2:178194449..178197899,4	K562	blood:
2	chr2:178127258..178130407-chr2:178194593..178198613,8	MCF-7	breast:
3	chr2:178133576..178135485-chr2:178196299..178198924,2	K562	blood:
4	chr2:178197665..178199290-chr2:178590307..178592698,2	K562	blood:
5	chr2:178127949..178131431-chr2:178195364..178200597,7	K562	blood:
6	chr2:178147905..178150215-chr2:178197711..178200128,3	K562	blood:
7	chr2:178077200..178078756-chr2:178196217..178198719,2	K562	blood:
8	chr2:178128085..178128821-chr2:178197259..178197985,2	K562	blood:
9	chr2:178193614..178195884-chr2:178197245..178198931,2	K562	blood:
10	chr2:178029203..178031622-chr2:178196979..178199645,3	K562	blood:
11	chr2:178130191..178133035-chr2:178195171..178199056,3	K562	blood:
12	chr2:178196424..178198872-chr2:178498721..178501636,2	K562	blood:
13	chr2:178120521..178123745-chr2:178196706..178199533,4	K562	blood:
14	chr2:178076403..178078756-chr2:178195004..178198719,3	K562	blood:
15	chr2:178091030..178093302-chr2:178197862..178200495,2	K562	blood:
16	chr2:178128048..178131363-chr2:178195705..178200002,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000265396	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000229337	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11679800	0.85[EUR][1000 genomes]
rs11688684	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474344	0.85[EUR][1000 genomes]
rs12476383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13022567	0.85[EUR][1000 genomes]
rs13030571	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069043	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364732	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
4	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
6	chr2:178191000-178200400	Weak transcription	Small Intestine	intestine
7	chr2:178191600-178202800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:178192000-178201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:178192200-178200000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:178193200-178202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:178194000-178202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:178195200-178213600	Weak transcription	Gastric	stomach
13	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:178196200-178198000	Enhancers	Ovary	ovary
15	chr2:178196400-178198000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:178196400-178198000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:178196400-178198200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:178196400-178198400	Enhancers	Liver	Liver
19	chr2:178196600-178198000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:178196600-178198000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:178196600-178198000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:178196600-178198000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:178196600-178198000	Genic enhancers	HSMM	muscle
24	chr2:178196800-178198000	Enhancers	Fetal Stomach	stomach
25	chr2:178196800-178198000	Enhancers	Hela-S3	cervix
26	chr2:178197000-178198200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:178197000-178198200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:178197000-178202600	Weak transcription	Osteobl	bone
29	chr2:178197000-178203800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:178197000-178207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:178197200-178198000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:178197200-178198000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:178197200-178198000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:178197200-178198000	Genic enhancers	A549	lung
35	chr2:178197200-178198000	Enhancers	HepG2	liver
36	chr2:178197200-178198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:178197200-178199000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:178197200-178200000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:178197200-178200000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:178197200-178200600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:178197200-178200600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:178197200-178201200	Weak transcription	Fetal Thymus	thymus
43	chr2:178197200-178202600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:178197200-178202600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:178197200-178202600	Weak transcription	NHEK	skin
46	chr2:178197200-178202800	Weak transcription	Adipose Nuclei	Adipose
47	chr2:178197200-178202800	Weak transcription	GM12878-XiMat	blood
48	chr2:178197200-178203200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:178197200-178204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:178197200-178211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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