Variant report

Variant	rs2950855
Chromosome Location	chr5:90418419-90418420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90413771..90418676-chr5:90419460..90425678,7	K562	blood:
2	chr5:90415624..90418676-chr5:90421411..90423997,3	K562	blood:
3	chr5:90414268..90419029-chr5:90677575..90681410,6	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12109264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16869403	0.81[CEU][hapmap]
rs16869404	0.90[CEU][hapmap]
rs16869414	0.90[CEU][hapmap]
rs16869425	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1852731	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1876635	0.81[CEU][hapmap]
rs1986718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886924	0.80[CEU][hapmap]
rs2950849	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2950850	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950852	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950853	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2950854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973444	0.90[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2973445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973455	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112484	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3952745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56377639	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58524182	0.84[AMR][1000 genomes]
rs59654682	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66482530	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6874106	0.90[CEU][hapmap]
rs73189007	1.00[ASN][1000 genomes]
rs73189008	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90396200-90422800	Weak transcription	Esophagus	oesophagus
2	chr5:90401600-90431800	Weak transcription	K562	blood
3	chr5:90403000-90431600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:90403200-90431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:90403400-90418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:90403400-90418800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:90406600-90421800	Weak transcription	Small Intestine	intestine
8	chr5:90406800-90418600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:90410800-90419200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:90411000-90421600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:90414000-90420000	Enhancers	NHDF-Ad	bronchial
12	chr5:90414600-90419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:90414800-90418600	Weak transcription	NHLF	lung
14	chr5:90414800-90420600	Enhancers	Stomach Smooth Muscle	stomach
15	chr5:90415000-90421800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:90415400-90418600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:90415400-90418800	Weak transcription	Psoas Muscle	Psoas
18	chr5:90415400-90419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:90415400-90419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:90415400-90422600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:90415600-90419800	Enhancers	Adipose Nuclei	Adipose
22	chr5:90415600-90422000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:90415800-90418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:90416000-90418600	Weak transcription	Ovary	ovary
25	chr5:90416000-90418600	Weak transcription	Right Atrium	heart
26	chr5:90416000-90420800	Weak transcription	Left Ventricle	heart
27	chr5:90416000-90420800	Weak transcription	Pancreas	Pancrea
28	chr5:90416000-90422200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:90416000-90422600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:90416000-90422600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:90416000-90430000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:90416200-90421600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:90416200-90421800	Weak transcription	Stomach Mucosa	stomach
34	chr5:90416400-90418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:90416600-90418800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:90416600-90419200	Weak transcription	Aorta	Aorta
37	chr5:90416600-90421600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:90416600-90421800	Weak transcription	Fetal Stomach	stomach
39	chr5:90416600-90422200	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:90416600-90422600	Weak transcription	Lung	lung
41	chr5:90416800-90418600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:90416800-90421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:90417000-90418800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:90417400-90419800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:90417800-90418800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:90417800-90418800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:90417800-90420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:90418000-90422200	Weak transcription	HMEC	breast
49	chr5:90418200-90418600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:90418200-90418800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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