Variant report

Variant	rs1421387
Chromosome Location	chr1:197587740-197587741
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	chr1:197581999..197584839-chr1:197586901..197591270,6	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1033826	1.00[MEX][hapmap]
rs1035320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10754226	1.00[MEX][hapmap]
rs10801617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801618	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1362940	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1421388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1570412	1.00[MEX][hapmap]
rs1570413	1.00[MEX][hapmap]
rs16841893	1.00[MEX][hapmap]
rs2160968	1.00[AMR][1000 genomes]
rs3902057	1.00[MEX][hapmap]
rs4244150	1.00[MEX][hapmap]
rs4915244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684593	1.00[MEX][hapmap]
rs7514167	1.00[MEX][hapmap]
rs942050	1.00[MEX][hapmap]
rs980371	1.00[MEX][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	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
2	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
3	nsv548872	chr1:197529218-197644581	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3397065	chr1:197545083-197637033	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
2	chr1:197537400-197602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:197541800-197602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:197541800-197602600	Weak transcription	Fetal Thymus	thymus
5	chr1:197542000-197609000	Weak transcription	Colonic Mucosa	Colon
6	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:197544400-197602400	Weak transcription	Primary B cells from cord blood	blood
8	chr1:197547400-197602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:197560200-197591400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:197561400-197589800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:197564800-197590000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:197564800-197599200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:197564800-197599400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:197565000-197611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:197569600-197590000	Weak transcription	Pancreas	Pancrea
17	chr1:197570200-197590000	Weak transcription	Psoas Muscle	Psoas
18	chr1:197578600-197611000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:197579000-197599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:197579400-197599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:197581000-197602600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:197581600-197588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:197583800-197599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:197584800-197602600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:197585000-197588200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:197585000-197590000	Enhancers	Liver	Liver
27	chr1:197585200-197588400	Weak transcription	HepG2	liver
28	chr1:197586000-197609800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:197586400-197594600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:197586400-197602000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:197586800-197588600	Enhancers	Fetal Heart	heart
32	chr1:197586800-197590200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:197586800-197599000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:197586800-197599000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:197587000-197599000	Weak transcription	Primary T cells from cord blood	blood
36	chr1:197587000-197602400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:197587000-197609800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:197587200-197602400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:197587400-197594400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:197587400-197606600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:197587600-197591000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:197587600-197599000	Weak transcription	Dnd41	blood
43	chr1:197587600-197602400	Weak transcription	Fetal Lung	lung
44	chr1:197587600-197610800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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