Variant report

Variant	rs4253132
Chromosome Location	chr10:50701156-50701157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50700902..50702826-chr10:50705116..50707314,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1018603	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745261	1.00[ASN][1000 genomes]
rs10776572	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776573	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776577	1.00[ASN][1000 genomes]
rs10857502	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11101147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475255	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917800	1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs1924490	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103201	1.00[ASN][1000 genomes]
rs2104346	1.00[ASN][1000 genomes]
rs3750746	0.80[LWK][hapmap]
rs4253026	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4253073	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253077	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253087	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253120	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253162	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4253164	1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838530	1.00[ASN][1000 genomes]
rs57509152	1.00[ASN][1000 genomes]
rs6537536	1.00[ASN][1000 genomes]
rs6537538	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072383	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7076173	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7080017	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091005	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72792895	1.00[ASN][1000 genomes]
rs72793798	1.00[ASN][1000 genomes]
rs7902661	1.00[ASN][1000 genomes]
rs7903788	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916873	1.00[ASN][1000 genomes]
rs7923762	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912470	1.00[ASN][1000 genomes]
rs958967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50667800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:50685000-50723400	Weak transcription	NHLF	lung
4	chr10:50686200-50705400	Weak transcription	Brain Germinal Matrix	brain
5	chr10:50686400-50707200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:50686400-50710600	Weak transcription	Psoas Muscle	Psoas
7	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:50686400-50716600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:50686600-50707400	Weak transcription	K562	blood
10	chr10:50686600-50715600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr10:50686600-50716000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:50686600-50716200	Weak transcription	GM12878-XiMat	blood
13	chr10:50686600-50716800	Weak transcription	Brain Anterior Caudate	brain
14	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
16	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:50686800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:50688200-50717000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:50689200-50716200	Weak transcription	Brain Substantia Nigra	brain
20	chr10:50690200-50703000	Weak transcription	Thymus	Thymus
21	chr10:50690200-50703600	Weak transcription	Pancreas	Pancrea
22	chr10:50690200-50718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
25	chr10:50690400-50710400	Weak transcription	Fetal Muscle Leg	muscle
26	chr10:50690400-50715800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:50690400-50716400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
29	chr10:50690600-50715800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr10:50690600-50716000	Weak transcription	Colon Smooth Muscle	Colon
31	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
32	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
33	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:50691000-50724400	Weak transcription	Lung	lung
35	chr10:50691000-50728200	Weak transcription	Gastric	stomach
36	chr10:50691200-50713000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr10:50691400-50706200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:50691400-50706600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr10:50691600-50701400	Weak transcription	Ovary	ovary
40	chr10:50691600-50701800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr10:50691600-50704000	Weak transcription	Aorta	Aorta
42	chr10:50691600-50706400	Weak transcription	Left Ventricle	heart
43	chr10:50691600-50707400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:50691600-50707400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:50691600-50708400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:50691600-50715000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr10:50691600-50715600	Weak transcription	Dnd41	blood
48	chr10:50691600-50716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr10:50691600-50716000	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:50691600-50723200	Weak transcription	Placenta	Placenta

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