Variant report

Variant	rs10495950
Chromosome Location	chr2:48434764-48434765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48434273..48436933-chr2:48509087..48510604,2	K562	blood:
2	chr2:48430653..48432447-chr2:48432583..48435502,2	K562	blood:
3	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11674475	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11676381	0.94[EUR][1000 genomes]
rs11676925	0.83[EUR][1000 genomes]
rs11677205	0.80[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs11677590	0.81[EUR][1000 genomes]
rs11679956	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680162	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11680404	0.83[EUR][1000 genomes]
rs11680657	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11681876	1.00[EUR][1000 genomes]
rs11683689	0.98[EUR][1000 genomes]
rs11687461	0.80[CEU][hapmap]
rs11687670	1.00[EUR][1000 genomes]
rs11687989	0.84[EUR][1000 genomes]
rs11689736	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11689818	0.84[EUR][1000 genomes]
rs11691493	0.94[EUR][1000 genomes]
rs11692660	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs11693267	0.94[EUR][1000 genomes]
rs11695799	0.81[EUR][1000 genomes]
rs11695923	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11889493	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13398456	0.80[CEU][hapmap]
rs13431982	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037218	0.87[YRI][hapmap]
rs17324965	0.95[EUR][1000 genomes]
rs17325048	1.00[EUR][1000 genomes]
rs17325209	0.92[EUR][1000 genomes]
rs17396793	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17397094	0.93[EUR][1000 genomes]
rs2014675	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2840147	0.87[EUR][1000 genomes]
rs34135365	0.94[EUR][1000 genomes]
rs4530419	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55802119	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56037709	0.82[EUR][1000 genomes]
rs58032869	0.87[EUR][1000 genomes]
rs58136909	0.86[EUR][1000 genomes]
rs6730166	0.95[EUR][1000 genomes]
rs6733558	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6745620	0.81[CEU][hapmap]
rs6747738	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6759056	0.94[EUR][1000 genomes]
rs7561696	0.84[EUR][1000 genomes]
rs7571905	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7581510	0.95[EUR][1000 genomes]
rs7583719	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs952468	0.89[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48423800-48435800	Weak transcription	Right Atrium	heart
2	chr2:48426200-48436200	Weak transcription	Right Ventricle	heart
3	chr2:48426800-48436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:48431200-48435000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:48431400-48435000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:48432200-48434800	Enhancers	Primary B cells from cord blood	blood
7	chr2:48432400-48435200	Enhancers	K562	blood
8	chr2:48432800-48436400	Weak transcription	HSMMtube	muscle
9	chr2:48432800-48438200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:48433000-48435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:48433000-48436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:48433000-48436400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:48433000-48438200	Weak transcription	Gastric	stomach
14	chr2:48433200-48434800	Enhancers	Brain Angular Gyrus	brain
15	chr2:48433200-48435000	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:48433200-48435000	Enhancers	Brain Hippocampus Middle	brain
17	chr2:48433200-48435200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:48433200-48435800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:48433200-48435800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:48433200-48435800	Weak transcription	NHLF	lung
21	chr2:48433200-48437000	Enhancers	HepG2	liver
22	chr2:48433200-48437200	Enhancers	Brain Substantia Nigra	brain
23	chr2:48433400-48435200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:48433400-48435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:48433400-48435800	Weak transcription	HSMM	muscle
26	chr2:48433400-48435800	Weak transcription	Osteobl	bone
27	chr2:48433400-48436000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:48433400-48436000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:48433400-48436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:48433600-48434800	Enhancers	Brain Anterior Caudate	brain
31	chr2:48433600-48435800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:48433600-48435800	Weak transcription	NHEK	skin
33	chr2:48433600-48436000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:48433600-48436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:48433800-48437000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:48434000-48434800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:48434000-48434800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr2:48434000-48434800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:48434000-48434800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:48434000-48435000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:48434000-48435000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:48434000-48435000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr2:48434000-48435000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:48434000-48435000	Enhancers	Fetal Lung	lung
45	chr2:48434000-48435800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:48434200-48434800	Enhancers	Left Ventricle	heart
47	chr2:48434200-48435000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:48434200-48435000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:48434400-48434800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr2:48434400-48434800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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