Variant report

Variant	rs74138619
Chromosome Location	chr1:212895191-212895192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212890618..212893441-chr1:212895011..212896992,2	K562	blood:
2	chr1:212883928..212885443-chr1:212893940..212896251,2	K562	blood:
3	chr1:212836810..212838698-chr1:212893366..212895753,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11119992	0.82[AMR][1000 genomes]
rs11119993	0.82[AMR][1000 genomes]
rs11119996	0.82[AMR][1000 genomes]
rs11119999	1.00[AMR][1000 genomes]
rs11120003	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11120004	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12070621	0.82[AMR][1000 genomes]
rs1472845	0.88[AFR][1000 genomes]
rs2262891	0.99[AFR][1000 genomes]
rs2940085	0.85[AFR][1000 genomes]
rs58453080	0.82[AMR][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	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212894400-212897200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:212894600-212895200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:212894600-212895200	Flanking Active TSS	GM12878-XiMat	blood
4	chr1:212894600-212895200	Flanking Active TSS	NHEK	skin
5	chr1:212894600-212895400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:212894600-212895400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:212894600-212895400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:212894600-212895400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:212894600-212895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:212894600-212895400	Enhancers	Placenta	Placenta
11	chr1:212894600-212895400	Flanking Active TSS	HepG2	liver
12	chr1:212894600-212895400	Flanking Active TSS	Osteobl	bone
13	chr1:212894600-212895600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:212894600-212895600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:212894600-212895600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:212894600-212895600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:212894600-212895600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:212894600-212895600	Enhancers	Lung	lung
19	chr1:212894600-212895600	Enhancers	HSMM	muscle
20	chr1:212894600-212895600	Enhancers	NH-A	brain
21	chr1:212894600-212895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:212894600-212895800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:212894600-212895800	Flanking Active TSS	A549	lung
24	chr1:212894600-212895800	Enhancers	Hela-S3	cervix
25	chr1:212894600-212895800	Enhancers	NHDF-Ad	bronchial
26	chr1:212894600-212896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:212894600-212896200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:212894600-212896200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:212894600-212896400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr1:212894600-212896400	Enhancers	HUVEC	blood vessel
31	chr1:212894600-212897200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:212894600-212897200	Enhancers	Dnd41	blood
33	chr1:212894800-212895400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:212894800-212895400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:212894800-212895600	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:212894800-212895600	Enhancers	HMEC	breast
37	chr1:212894800-212895800	Enhancers	Stomach Mucosa	stomach
38	chr1:212894800-212895800	Enhancers	NHLF	lung
39	chr1:212894800-212896000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:212895000-212895200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:212895000-212895200	Enhancers	Left Ventricle	heart
42	chr1:212895000-212895400	Enhancers	Primary T cells from cord blood	blood
43	chr1:212895000-212895400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:212895000-212895400	Enhancers	Liver	Liver
45	chr1:212895000-212895400	Enhancers	Esophagus	oesophagus
46	chr1:212895000-212895400	Enhancers	Right Ventricle	heart
47	chr1:212895000-212895600	Flanking Active TSS	K562	blood
48	chr1:212895000-212896200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:212895000-212896400	Enhancers	Monocytes-CD14+_RO01746	blood

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