Variant report

Variant	rs35213944
Chromosome Location	chr12:45757053-45757054
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10431612	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785569	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880775	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880777	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182983	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182986	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182988	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182989	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182990	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182991	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182995	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182996	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182998	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183002	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183005	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183006	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183007	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183010	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183011	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183013	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183014	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183021	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183023	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183029	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183037	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11183038	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183042	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11533629	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11543435	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11553695	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12228410	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12231770	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12297071	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809159	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818836	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12829186	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378014	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1863549	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1913696	0.97[ASN][1000 genomes]
rs2090230	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2162322	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34321530	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34547270	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168706	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35847979	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803178	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803179	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58640880	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59030619	0.80[AFR][1000 genomes]
rs59846961	0.80[AFR][1000 genomes]
rs59899152	0.80[AFR][1000 genomes]
rs61471266	0.80[AFR][1000 genomes]
rs71461108	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73279690	0.80[AFR][1000 genomes]
rs73279696	0.80[AFR][1000 genomes]
rs73279698	0.80[AFR][1000 genomes]
rs73279700	0.80[AFR][1000 genomes]
rs73281510	0.80[AFR][1000 genomes]
rs73281512	0.80[AFR][1000 genomes]
rs73281519	0.80[AFR][1000 genomes]
rs73281526	0.80[AFR][1000 genomes]
rs73281536	0.80[AFR][1000 genomes]
rs73281545	0.80[AFR][1000 genomes]
rs73281549	0.80[AFR][1000 genomes]
rs73281553	0.80[AFR][1000 genomes]
rs73281555	0.80[AFR][1000 genomes]
rs73281565	0.80[AFR][1000 genomes]
rs73281566	0.80[AFR][1000 genomes]
rs73281571	0.80[AFR][1000 genomes]
rs73281577	0.80[AFR][1000 genomes]
rs73281581	0.80[AFR][1000 genomes]
rs73281585	0.80[AFR][1000 genomes]
rs73281588	0.80[AFR][1000 genomes]
rs73281594	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
5	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
8	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:45745000-45779800	Weak transcription	Gastric	stomach
10	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
11	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
12	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:45750000-45772200	Weak transcription	K562	blood
17	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
18	chr12:45752200-45757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:45752200-45757600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:45752200-45757600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:45752200-45762200	Weak transcription	Right Ventricle	heart
22	chr12:45752200-45762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:45752200-45762600	Weak transcription	HSMMtube	muscle
24	chr12:45752200-45762600	Weak transcription	NH-A	brain
25	chr12:45752200-45763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
28	chr12:45752400-45758800	Weak transcription	Fetal Heart	heart
29	chr12:45752400-45763800	Weak transcription	HMEC	breast
30	chr12:45752800-45757200	Weak transcription	Ovary	ovary
31	chr12:45752800-45757600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:45753200-45760400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:45753800-45757400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:45753800-45757600	Weak transcription	Liver	Liver
35	chr12:45754200-45757800	Weak transcription	Fetal Kidney	kidney
36	chr12:45754600-45757600	Weak transcription	NHDF-Ad	bronchial
37	chr12:45754800-45758400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr12:45755000-45759200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:45755000-45761600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:45755200-45758400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr12:45755200-45758800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr12:45755200-45759000	ZNF genes & repeats	Dnd41	blood
43	chr12:45755200-45759800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr12:45755600-45758600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr12:45755800-45757400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:45755800-45759000	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr12:45755800-45759200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr12:45755800-45759400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:45756000-45759000	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr12:45756200-45757600	Weak transcription	HSMM	muscle

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