Variant report

Variant	rs12141336
Chromosome Location	chr1:193200305-193200306
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	chr1:193149877..193151393-chr1:193197676..193200636,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494675	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10801186	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10921331	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119992	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12122868	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123069	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12123793	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124921	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12124924	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129126	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12135148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141029	0.95[AFR][1000 genomes]
rs12141559	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143361	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12143573	1.00[AFR][1000 genomes]
rs12145101	1.00[AFR][1000 genomes]
rs12145609	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145761	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1325196	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17526825	1.00[AFR][1000 genomes]
rs17528639	0.94[EUR][1000 genomes]
rs17592633	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17593120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17593414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28930673	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28930674	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs528790	0.97[EUR][1000 genomes]
rs6663374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6667917	1.00[AFR][1000 genomes]
rs6682904	0.86[EUR][1000 genomes]
rs6685991	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72731066	0.90[AFR][1000 genomes]
rs72731068	0.95[AFR][1000 genomes]
rs72740227	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740228	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740230	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72740243	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740261	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740270	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740276	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525157	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs817137	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:193167800-193210400	Weak transcription	Ovary	ovary
5	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
6	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:193180600-193200400	Weak transcription	Fetal Heart	heart
11	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
13	chr1:193181000-193207400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:193181800-193210400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
16	chr1:193183400-193211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:193183400-193216000	Weak transcription	NHEK	skin
18	chr1:193184200-193202200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:193184200-193209000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:193184400-193202000	Weak transcription	K562	blood
21	chr1:193184400-193227600	Weak transcription	HMEC	breast
22	chr1:193185000-193204200	Weak transcription	Fetal Kidney	kidney
23	chr1:193185400-193204600	Weak transcription	NHDF-Ad	bronchial
24	chr1:193185400-193211000	Weak transcription	Fetal Brain Female	brain
25	chr1:193185400-193218200	Weak transcription	HepG2	liver
26	chr1:193185600-193202200	Weak transcription	Osteobl	bone
27	chr1:193186200-193202000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:193186200-193202000	Weak transcription	NH-A	brain
29	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
30	chr1:193186600-193210600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:193186800-193202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:193186800-193210400	Weak transcription	Lung	lung
34	chr1:193187000-193201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:193187000-193202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:193187000-193205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:193187000-193205200	Weak transcription	Fetal Intestine Small	intestine
38	chr1:193187000-193205200	Weak transcription	Left Ventricle	heart
39	chr1:193187000-193205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:193187000-193205400	Weak transcription	Fetal Stomach	stomach
41	chr1:193187000-193206600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:193187000-193207200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:193187000-193210400	Weak transcription	Gastric	stomach
44	chr1:193187000-193210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:193187000-193212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:193187000-193213000	Weak transcription	Spleen	Spleen
47	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
48	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
49	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:193187200-193202200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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