Variant report

Variant	rs4253121
Chromosome Location	chr10:50706987-50706988
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: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1130028	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812473	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11815156	0.87[EUR][1000 genomes]
rs11819019	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17010079	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17719092	0.88[EUR][1000 genomes]
rs17775180	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228526	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228527	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36079558	0.90[EUR][1000 genomes]
rs3940160	0.97[ASN][1000 genomes]
rs4253011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253028	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253042	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253049	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253055	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253101	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253166	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56164647	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58002245	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58711755	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs58912975	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59898389	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61846612	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61846615	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61846616	0.96[EUR][1000 genomes]
rs61846617	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61846618	0.95[EUR][1000 genomes]
rs61846620	0.90[EUR][1000 genomes]
rs61846637	0.87[EUR][1000 genomes]
rs61850971	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61850976	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7067651	0.81[TSI][hapmap]
rs7073830	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079192	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7093098	0.96[EUR][1000 genomes]
rs7097122	0.87[EUR][1000 genomes]
rs7097866	0.90[EUR][1000 genomes]
rs7909222	0.88[EUR][1000 genomes]
rs7920256	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971667	0.98[AFR][1000 genomes];0.98[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:99 , 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	chr10:50686400-50707200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:50686400-50710600	Weak transcription	Psoas Muscle	Psoas
6	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:50686400-50716600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:50686600-50707400	Weak transcription	K562	blood
9	chr10:50686600-50715600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:50686600-50716000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:50686600-50716200	Weak transcription	GM12878-XiMat	blood
12	chr10:50686600-50716800	Weak transcription	Brain Anterior Caudate	brain
13	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
15	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:50686800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:50688200-50717000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:50689200-50716200	Weak transcription	Brain Substantia Nigra	brain
19	chr10:50690200-50718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
22	chr10:50690400-50710400	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:50690400-50715800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:50690400-50716400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
26	chr10:50690600-50715800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr10:50690600-50716000	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
29	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
30	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr10:50691000-50724400	Weak transcription	Lung	lung
32	chr10:50691000-50728200	Weak transcription	Gastric	stomach
33	chr10:50691200-50713000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:50691600-50707400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:50691600-50707400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:50691600-50708400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr10:50691600-50715000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:50691600-50715600	Weak transcription	Dnd41	blood
39	chr10:50691600-50716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr10:50691600-50716000	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
42	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
43	chr10:50693400-50715600	Weak transcription	Fetal Stomach	stomach
44	chr10:50693400-50718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr10:50693400-50719400	Weak transcription	Fetal Intestine Small	intestine
46	chr10:50694400-50716000	Weak transcription	Brain Angular Gyrus	brain
47	chr10:50694800-50716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
49	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine

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