Variant report

Variant	rs9636391
Chromosome Location	chr2:50201110-50201111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12470829	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12478797	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1363036	0.86[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1363052	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1369295	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1369297	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1421567	0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs1421569	0.82[CHB][hapmap]
rs1421577	0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1421598	0.93[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs1469002	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1469003	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477248	0.93[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1477249	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1541642	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1592728	0.83[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs1865490	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1895132	0.82[CHB][hapmap]
rs2193865	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2351149	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2859977	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4583505	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs4971632	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4971635	0.82[JPT][hapmap]
rs6545137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap]
rs6545144	0.86[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6706484	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706613	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6712956	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs6714990	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761463	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562931	0.83[EUR][1000 genomes]
rs7596020	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs930295	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs980794	0.93[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932839	chr2:50181785-50225697	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 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	chr2:50198800-50201800	Active TSS	Brain Angular Gyrus	brain
2	chr2:50199200-50201400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:50199200-50201400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:50199600-50201200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:50199600-50201600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:50199600-50201800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:50199800-50201800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:50199800-50201800	Active TSS	Brain Anterior Caudate	brain
9	chr2:50199800-50201800	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:50200000-50201200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:50200000-50201200	Enhancers	Fetal Heart	heart
12	chr2:50200000-50201800	Active TSS	Fetal Brain Female	brain
13	chr2:50200200-50201200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:50200200-50201200	Weak transcription	Pancreas	Pancrea
15	chr2:50200400-50201200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:50200600-50201200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:50200600-50201200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:50200600-50201200	Active TSS	Right Ventricle	heart
19	chr2:50200600-50201800	Active TSS	Brain Germinal Matrix	brain
20	chr2:50200600-50201800	Active TSS	Fetal Kidney	kidney
21	chr2:50200800-50201400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:50200800-50201800	Active TSS	Brain Hippocampus Middle	brain
23	chr2:50200800-50201800	Active TSS	Fetal Intestine Small	intestine
24	chr2:50200800-50201800	Active TSS	Right Atrium	heart
25	chr2:50200800-50205600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:50201000-50201200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr2:50201000-50201200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:50201000-50201200	Active TSS	Adipose Nuclei	Adipose
29	chr2:50201000-50201200	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:50201000-50201200	Enhancers	NHEK	skin
31	chr2:50201000-50201400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr2:50201000-50201400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:50201000-50201400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:50201000-50201400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:50201000-50201400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:50201000-50201400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:50201000-50201400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr2:50201000-50201400	Flanking Active TSS	Fetal Lung	lung
39	chr2:50201000-50201400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr2:50201000-50201400	Active TSS	Rectal Smooth Muscle	rectum
41	chr2:50201000-50201600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr2:50201000-50201600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:50201000-50201600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:50201000-50201600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:50201000-50201600	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr2:50201000-50201600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:50201000-50201600	Active TSS	Primary B cells from cord blood	blood
48	chr2:50201000-50201600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:50201000-50201600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr2:50201000-50201600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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