Variant report

Variant	rs12250550
Chromosome Location	chr10:91127046-91127047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10159717	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203082	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203083	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11203087	0.83[EUR][1000 genomes]
rs11203091	0.83[EUR][1000 genomes]
rs11203093	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11203095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242873	1.00[AMR][1000 genomes]
rs12243051	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12243721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12243856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12245646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12250610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12251678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12252455	1.00[AMR][1000 genomes]
rs12255221	0.87[AFR][1000 genomes]
rs12256540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12259825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12259887	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12263019	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12263584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267215	0.83[EUR][1000 genomes]
rs12268333	0.83[EUR][1000 genomes]
rs12269110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59633641	1.00[EUR][1000 genomes]
rs7074809	1.00[EUR][1000 genomes]
rs7079179	1.00[EUR][1000 genomes]
rs7090951	1.00[EUR][1000 genomes]
rs7910157	1.00[EUR][1000 genomes]
rs7912070	1.00[AMR][1000 genomes]
rs7919999	1.00[EUR][1000 genomes]
rs7922439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91112400-91127400	Weak transcription	Left Ventricle	heart
2	chr10:91117000-91127800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:91117200-91127400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:91117200-91127400	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:91119600-91133800	Weak transcription	Pancreas	Pancrea
6	chr10:91120000-91127200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:91121000-91127200	Weak transcription	Fetal Intestine Large	intestine
8	chr10:91122600-91127400	Weak transcription	Placenta	Placenta
9	chr10:91122600-91127400	Weak transcription	Right Atrium	heart
10	chr10:91122600-91128600	Weak transcription	Ovary	ovary
11	chr10:91122800-91127200	Weak transcription	Fetal Intestine Small	intestine
12	chr10:91123800-91128800	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:91124000-91127200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:91124000-91127200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr10:91124000-91128000	Weak transcription	NHLF	lung
16	chr10:91124000-91129000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr10:91124000-91129000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:91124000-91130400	Weak transcription	K562	blood
19	chr10:91124200-91127200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:91124200-91127200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr10:91124200-91127200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr10:91124200-91127400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:91124200-91127400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:91124200-91127600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:91124800-91128000	Weak transcription	HSMMtube	muscle
26	chr10:91124800-91128800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr10:91125000-91127200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:91125000-91127200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:91125000-91127400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr10:91125000-91127600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:91125000-91128800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr10:91125000-91128800	Weak transcription	Psoas Muscle	Psoas
33	chr10:91125200-91128800	Weak transcription	Fetal Heart	heart
34	chr10:91127000-91127200	Weak transcription	Fetal Kidney	kidney
35	chr10:91127000-91128200	Flanking Active TSS	GM12878-XiMat	blood
36	chr10:91127000-91128600	Enhancers	Brain Anterior Caudate	brain
37	chr10:91127000-91128800	Enhancers	Brain Hippocampus Middle	brain
38	chr10:91127000-91129000	Enhancers	Brain Substantia Nigra	brain
39	chr10:91127000-91129400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:91127000-91129600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:91127000-91130000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr10:91127000-91130200	Enhancers	Liver	Liver

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