Variant report

Variant	rs12142127
Chromosome Location	chr1:197480927-197480928
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	chr1:197466870..197468517-chr1:197480625..197483174,2	K562	blood:
2	chr1:197473765..197476231-chr1:197480275..197482874,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10801605	0.81[CEU][hapmap]
rs10922216	0.81[CEU][hapmap]
rs10922221	0.81[CEU][hapmap]
rs10922223	0.81[CEU][hapmap]
rs10922225	0.81[CEU][hapmap]
rs10922247	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922249	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12118913	0.83[ASN][1000 genomes]
rs12354257	0.87[CEU][hapmap]
rs17621130	1.00[ASN][1000 genomes]
rs1775452	0.88[CEU][hapmap]
rs2042097	1.00[ASN][1000 genomes]
rs2494268	0.81[CEU][hapmap]
rs2821102	0.81[CEU][hapmap]
rs2821108	0.80[CEU][hapmap]
rs35624964	0.96[ASN][1000 genomes]
rs67236816	0.89[ASN][1000 genomes]
rs7522325	0.80[CEU][hapmap]

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	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521647	chr1:197464448-197529218	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv4010	chr1:197471463-197511397	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197467200-197499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:197474000-197481600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:197475000-197484800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:197476800-197482600	Weak transcription	Hela-S3	cervix
5	chr1:197476800-197483400	Weak transcription	Small Intestine	intestine
6	chr1:197476800-197484600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:197477800-197481000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:197478000-197481000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:197478000-197482200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:197478000-197483800	Weak transcription	Right Ventricle	heart
11	chr1:197478000-197541200	Weak transcription	Aorta	Aorta
12	chr1:197478200-197481200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr1:197478200-197481800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:197478200-197482200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:197478200-197482600	Weak transcription	Lung	lung
16	chr1:197478600-197481000	Weak transcription	Fetal Brain Female	brain
17	chr1:197478600-197481000	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:197478600-197481200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:197478600-197481200	Weak transcription	Pancreas	Pancrea
20	chr1:197478600-197491200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:197478800-197481000	Weak transcription	NHEK	skin
22	chr1:197478800-197481400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:197478800-197481400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:197478800-197481600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:197478800-197481800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:197478800-197482000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:197478800-197482200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:197479000-197481600	Weak transcription	Osteobl	bone
29	chr1:197479000-197482200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:197479000-197482200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:197479200-197481200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:197479200-197481400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:197479200-197482000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:197479200-197482000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:197479400-197481200	Strong transcription	Liver	Liver
36	chr1:197479600-197481200	Strong transcription	Primary T cells from cord blood	blood
37	chr1:197479600-197481200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:197479600-197481200	Strong transcription	Adipose Nuclei	Adipose
39	chr1:197479600-197481400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:197479600-197482000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:197480000-197482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:197480000-197484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:197480000-197489600	Weak transcription	Psoas Muscle	Psoas
44	chr1:197480000-197489800	Weak transcription	Brain Anterior Caudate	brain
45	chr1:197480000-197491000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:197480000-197535800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:197480200-197485400	Weak transcription	Thymus	Thymus
48	chr1:197480200-197485600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:197480200-197489200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:197480200-197541200	Weak transcription	Esophagus	oesophagus

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