Variant report

Variant	rs1447490
Chromosome Location	chr2:205317292-205317293
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205314742..205317390-chr2:205323844..205326602,2	K562	blood:
2	chr2:205314792..205317401-chr2:205318306..205319999,2	K562	blood:
3	chr2:205269954..205272543-chr2:205315221..205317326,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10084416	0.93[ASN][1000 genomes]
rs10490267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10932063	0.95[ASN][1000 genomes]
rs1156249	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11690070	0.95[ASN][1000 genomes]
rs12472876	1.00[ASN][1000 genomes]
rs12616166	0.87[ASN][1000 genomes]
rs12990859	0.85[EUR][1000 genomes]
rs13003798	0.83[EUR][1000 genomes]
rs13005161	0.83[EUR][1000 genomes]
rs13007075	0.83[EUR][1000 genomes]
rs13010221	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13021097	0.83[EUR][1000 genomes]
rs13024043	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1374708	0.95[ASN][1000 genomes]
rs1374709	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1447488	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1447493	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447495	0.89[ASN][1000 genomes]
rs1550909	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1550910	0.82[YRI][hapmap]
rs17637637	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17637778	0.83[EUR][1000 genomes]
rs34157021	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34368384	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34816339	0.81[EUR][1000 genomes]
rs35071164	0.88[EUR][1000 genomes]
rs35207649	0.85[EUR][1000 genomes]
rs4675457	0.86[ASN][1000 genomes]
rs71427747	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71427750	0.84[EUR][1000 genomes]
rs71427751	0.83[EUR][1000 genomes]
rs71427753	0.81[EUR][1000 genomes]
rs7602656	0.89[ASN][1000 genomes]
rs921163	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs959032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959033	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205314000-205320000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:205314600-205319800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:205315600-205317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:205315600-205318400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:205315600-205318400	Weak transcription	Brain Substantia Nigra	brain
6	chr2:205315600-205318800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:205316000-205318400	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:205316200-205317600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:205316400-205318400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:205316400-205318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:205316400-205318600	Weak transcription	Lung	lung
12	chr2:205316600-205317800	Enhancers	Fetal Intestine Large	intestine
13	chr2:205316600-205318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:205316600-205318400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:205316600-205320200	Enhancers	Fetal Brain Male	brain
16	chr2:205316600-205320400	Enhancers	Fetal Intestine Small	intestine
17	chr2:205316800-205317400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:205316800-205317400	Enhancers	Hela-S3	cervix
19	chr2:205316800-205317600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:205316800-205317800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:205316800-205317800	Enhancers	Fetal Stomach	stomach
22	chr2:205316800-205318200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:205316800-205318400	Enhancers	Adipose Nuclei	Adipose
24	chr2:205316800-205318600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:205316800-205319000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:205316800-205319200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:205316800-205319600	Enhancers	Fetal Kidney	kidney
28	chr2:205316800-205320200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:205317000-205317400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:205317000-205317400	Flanking Active TSS	Fetal Lung	lung
31	chr2:205317000-205317400	Enhancers	Right Atrium	heart
32	chr2:205317000-205317400	Flanking Active TSS	Osteobl	bone
33	chr2:205317000-205317600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:205317000-205317600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:205317000-205317800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:205317000-205317800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr2:205317000-205317800	Enhancers	HepG2	liver
38	chr2:205317000-205317800	Flanking Active TSS	HUVEC	blood vessel
39	chr2:205317000-205318000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:205317200-205317400	Enhancers	Colon Smooth Muscle	Colon
41	chr2:205317200-205317400	Enhancers	Esophagus	oesophagus
42	chr2:205317200-205317400	Enhancers	Ovary	ovary
43	chr2:205317200-205317600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:205317200-205317600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:205317200-205317600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:205317200-205317600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:205317200-205317600	Active TSS	NH-A	brain
48	chr2:205317200-205317600	Active TSS	NHDF-Ad	bronchial
49	chr2:205317200-205317800	Enhancers	Left Ventricle	heart
50	chr2:205317200-205317800	Flanking Active TSS	A549	lung

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