Variant report

Variant	rs16921947
Chromosome Location	chr10:22190655-22190656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11814448	0.82[EUR][1000 genomes]
rs11818726	0.90[EUR][1000 genomes]
rs12248406	0.82[EUR][1000 genomes]
rs12263070	0.89[EUR][1000 genomes]
rs16921976	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs16922008	0.89[EUR][1000 genomes]
rs16922014	0.89[EUR][1000 genomes]
rs2457954	1.00[CHB][hapmap]
rs55702118	0.89[EUR][1000 genomes]
rs55789720	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56024469	0.89[EUR][1000 genomes]
rs56121502	0.89[EUR][1000 genomes]
rs56328322	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58327563	0.87[ASN][1000 genomes]
rs61454417	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66617324	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66867344	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66954116	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67106981	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67626393	0.89[EUR][1000 genomes]
rs7078177	0.82[EUR][1000 genomes]
rs72797470	1.00[ASN][1000 genomes]
rs72797490	0.89[EUR][1000 genomes]
rs72802957	0.89[EUR][1000 genomes]
rs72802961	0.89[EUR][1000 genomes]
rs72802964	0.89[EUR][1000 genomes]
rs72806949	1.00[ASN][1000 genomes]
rs72806951	1.00[ASN][1000 genomes]
rs72810732	0.89[EUR][1000 genomes]
rs72810741	0.89[EUR][1000 genomes]
rs72810756	0.89[EUR][1000 genomes]
rs72810759	0.89[EUR][1000 genomes]
rs72810761	0.89[EUR][1000 genomes]
rs72810769	0.89[EUR][1000 genomes]
rs7912711	1.00[ASN][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	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048924	chr10:22177164-22296409	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv831808	chr10:22187850-22357814	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16921947	MT1X	trans	lymphoblastoid	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22153000-22200600	Weak transcription	Osteobl	bone
2	chr10:22160400-22195600	Weak transcription	NHEK	skin
3	chr10:22161400-22207600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:22162200-22201600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:22163400-22191200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:22167200-22196600	Weak transcription	Small Intestine	intestine
7	chr10:22167600-22193400	Weak transcription	Brain Substantia Nigra	brain
8	chr10:22170600-22192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:22170600-22200200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:22171200-22192400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:22171200-22197000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:22173400-22190800	Weak transcription	Stomach Mucosa	stomach
13	chr10:22178400-22200200	Weak transcription	Thymus	Thymus
14	chr10:22179000-22201600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:22179000-22224000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:22179200-22192000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:22179400-22194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr10:22179600-22196000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:22180000-22200600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:22181000-22193000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:22181200-22196400	Weak transcription	Fetal Heart	heart
22	chr10:22181600-22192400	Weak transcription	NH-A	brain
23	chr10:22182000-22192000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:22182000-22200800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr10:22182400-22198000	Weak transcription	A549	lung
26	chr10:22182600-22192000	Weak transcription	Placenta	Placenta
27	chr10:22183200-22201600	Weak transcription	Brain Angular Gyrus	brain
28	chr10:22183400-22190800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr10:22183400-22192400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:22183400-22197400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr10:22183400-22201400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:22183400-22221000	Weak transcription	Left Ventricle	heart
33	chr10:22183800-22199000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr10:22183800-22200800	Weak transcription	Primary T cells from cord blood	blood
35	chr10:22183800-22207800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:22183800-22215600	Weak transcription	HSMM	muscle
37	chr10:22184200-22192200	Weak transcription	Fetal Lung	lung
38	chr10:22184200-22201800	Weak transcription	Brain Anterior Caudate	brain
39	chr10:22184400-22192200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr10:22184400-22192400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:22184800-22191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:22185000-22192400	Weak transcription	K562	blood
43	chr10:22185000-22203200	Weak transcription	Spleen	Spleen
44	chr10:22185000-22222000	Weak transcription	Right Ventricle	heart
45	chr10:22185200-22210200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr10:22185400-22192400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:22185400-22192400	Weak transcription	Primary B cells from cord blood	blood
48	chr10:22186000-22201400	Weak transcription	GM12878-XiMat	blood
49	chr10:22186600-22204400	Weak transcription	Esophagus	oesophagus
50	chr10:22188200-22196600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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