Variant report

Variant	rs4240508
Chromosome Location	chr10:50702375-50702376
allele	A/G
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:
2	chr10:50695638..50697710-chr10:50701601..50704243,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1012553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1012554	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776576	0.99[ASN][1000 genomes]
rs10857503	0.86[ASN][1000 genomes]
rs11101137	0.82[CHB][hapmap]
rs11101140	0.98[ASN][1000 genomes]
rs11101148	0.89[ASN][1000 genomes]
rs11101153	0.85[ASN][1000 genomes]
rs11101154	0.85[ASN][1000 genomes]
rs11527799	0.85[ASN][1000 genomes]
rs11594945	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs11815415	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12217467	0.93[ASN][1000 genomes]
rs12218455	0.86[ASN][1000 genomes]
rs12218602	0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12220258	0.95[ASN][1000 genomes]
rs12413113	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1917799	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1924488	0.99[ASN][1000 genomes]
rs2222638	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2228524	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228528	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2889771	0.85[ASN][1000 genomes]
rs3750745	0.86[ASN][1000 genomes]
rs3763728	0.85[ASN][1000 genomes]
rs3793786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793788	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4012459	0.86[ASN][1000 genomes]
rs4240507	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4253009	0.90[ASN][1000 genomes]
rs4253013	0.82[CHB][hapmap]
rs4253024	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4253043	0.82[CHB][hapmap]
rs4253060	0.82[CHB][hapmap]
rs4253082	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4253226	0.95[ASN][1000 genomes]
rs56002988	0.85[ASN][1000 genomes]
rs57761316	0.86[ASN][1000 genomes]
rs59219652	0.86[ASN][1000 genomes]
rs61288726	0.86[ASN][1000 genomes]
rs6537537	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7080607	0.94[ASN][1000 genomes]
rs7082895	0.90[ASN][1000 genomes]
rs7087700	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096755	0.85[ASN][1000 genomes]
rs7901433	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7922756	0.81[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	chr10:50691600-50704000	Weak transcription	Aorta	Aorta
40	chr10:50691600-50706400	Weak transcription	Left Ventricle	heart
41	chr10:50691600-50707400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:50691600-50707400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr10:50691600-50708400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:50691600-50715000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr10:50691600-50715600	Weak transcription	Dnd41	blood
46	chr10:50691600-50716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:50691600-50716000	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
49	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
50	chr10:50693400-50715600	Weak transcription	Fetal Stomach	stomach

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