Variant report

Variant	rs10201427
Chromosome Location	chr2:20800226-20800227
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
2	chr2:20800159..20801745-chr2:20823636..20825294,2	K562	blood:
3	chr2:20785689..20787635-chr2:20799308..20801529,2	K562	blood:
4	chr2:20798546..20802204-chr2:20815122..20819483,4	MCF-7	breast:
5	chr2:20794523..20801165-chr2:20801395..20807064,11	K562	blood:
6	chr2:20798603..20801119-chr2:20825014..20826613,2	K562	blood:
7	chr2:20798617..20801050-chr2:20836301..20838004,2	MCF-7	breast:
8	chr2:20674472..20676562-chr2:20797774..20800276,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000233416	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000118960	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10176721	1.00[EUR][1000 genomes]
rs10200826	1.00[EUR][1000 genomes]
rs10203073	1.00[EUR][1000 genomes]
rs11893093	1.00[EUR][1000 genomes]
rs1437408	1.00[EUR][1000 genomes]
rs553687	1.00[EUR][1000 genomes]
rs56737091	1.00[EUR][1000 genomes]
rs57494499	1.00[EUR][1000 genomes]
rs57524662	1.00[EUR][1000 genomes]
rs58590712	1.00[EUR][1000 genomes]
rs58696000	1.00[EUR][1000 genomes]
rs59882809	1.00[EUR][1000 genomes]
rs60283906	1.00[EUR][1000 genomes]
rs61478003	1.00[EUR][1000 genomes]
rs648568	1.00[EUR][1000 genomes]
rs6736533	1.00[EUR][1000 genomes]
rs6759981	1.00[EUR][1000 genomes]
rs73235054	1.00[EUR][1000 genomes]
rs73235060	1.00[EUR][1000 genomes]
rs73235063	1.00[EUR][1000 genomes]
rs73235064	1.00[EUR][1000 genomes]
rs73235072	1.00[EUR][1000 genomes]
rs73235079	1.00[EUR][1000 genomes]
rs73235100	1.00[EUR][1000 genomes]
rs73237114	1.00[EUR][1000 genomes]
rs73237135	1.00[EUR][1000 genomes]
rs73237147	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20789200-20800400	Enhancers	Placenta	Placenta
2	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
3	chr2:20791800-20800400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:20792800-20801800	Enhancers	HUVEC	blood vessel
5	chr2:20793000-20800400	Enhancers	Left Ventricle	heart
6	chr2:20793000-20801200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:20793800-20801400	Enhancers	Brain Angular Gyrus	brain
8	chr2:20794800-20801200	Enhancers	Brain Anterior Caudate	brain
9	chr2:20794800-20801200	Enhancers	Brain Substantia Nigra	brain
10	chr2:20795000-20801200	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:20795000-20801600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:20795000-20802000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:20795800-20801000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:20796000-20802400	Weak transcription	NHEK	skin
15	chr2:20796200-20804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:20796600-20804400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:20796800-20800600	Enhancers	Liver	Liver
18	chr2:20797000-20803800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:20797000-20810600	Weak transcription	Colonic Mucosa	Colon
20	chr2:20797600-20810600	Weak transcription	Fetal Kidney	kidney
21	chr2:20797800-20804000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:20797800-20804400	Weak transcription	Fetal Lung	lung
23	chr2:20797800-20804400	Weak transcription	NH-A	brain
24	chr2:20797800-20804400	Weak transcription	NHLF	lung
25	chr2:20797800-20810800	Weak transcription	Gastric	stomach
26	chr2:20798000-20801200	Enhancers	HepG2	liver
27	chr2:20798000-20802600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:20798200-20800800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:20798200-20802400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:20798200-20804200	Weak transcription	Ovary	ovary
31	chr2:20798400-20800400	Enhancers	Lung	lung
32	chr2:20798400-20801200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:20798600-20800400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:20798800-20800400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:20798800-20800400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:20798800-20800400	Enhancers	NHDF-Ad	bronchial
37	chr2:20798800-20801000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:20799000-20800400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:20799000-20800400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:20799000-20801200	Enhancers	Hela-S3	cervix
41	chr2:20799200-20804600	Weak transcription	Brain Germinal Matrix	brain
42	chr2:20799200-20809800	Weak transcription	Spleen	Spleen
43	chr2:20799400-20800800	Weak transcription	K562	blood
44	chr2:20799400-20804600	Weak transcription	HMEC	breast
45	chr2:20799600-20801000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:20799800-20800400	Enhancers	HSMM	muscle
47	chr2:20799800-20800600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:20799800-20800800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:20799800-20801000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:20799800-20801200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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