Variant report

Variant	rs12729996
Chromosome Location	chr1:211469497-211469498
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211468950..211472064-chr1:211475705..211479173,5	K562	blood:
2	chr1:211457657..211459209-chr1:211467966..211470950,2	K562	blood:
3	chr1:211464997..211467181-chr1:211468557..211470488,2	K562	blood:
4	chr1:211467547..211469640-chr1:211472700..211475245,3	K562	blood:

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11119713	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11803005	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11806910	0.85[EUR][1000 genomes]
rs12723208	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12731366	0.88[CEU][hapmap]
rs12743458	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752670	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12754607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754747	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756590	0.90[EUR][1000 genomes]
rs17188916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17267484	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs17267491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17267554	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17267561	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2280079	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34027321	0.94[EUR][1000 genomes]
rs34140425	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34251608	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34256746	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34813082	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35228985	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35711226	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35791308	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35995968	0.89[EUR][1000 genomes]
rs41275358	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540681	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs66526219	0.90[EUR][1000 genomes]
rs6679980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686281	0.81[EUR][1000 genomes]
rs67764962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67772854	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71640006	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211434400-211487000	Weak transcription	Gastric	stomach
2	chr1:211434600-211478200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:211434800-211474200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:211438800-211478800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:211439800-211478200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:211440800-211481800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:211440800-211483600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:211443000-211480000	Strong transcription	Dnd41	blood
9	chr1:211443000-211480400	Strong transcription	Placenta	Placenta
10	chr1:211443200-211484000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:211443800-211478200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:211444400-211479000	Strong transcription	Liver	Liver
13	chr1:211444600-211471000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:211444600-211478000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:211444600-211479200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:211444800-211491200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:211445800-211486800	Weak transcription	Esophagus	oesophagus
18	chr1:211447800-211479200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:211447800-211486200	Weak transcription	Stomach Mucosa	stomach
20	chr1:211449000-211479800	Strong transcription	Fetal Thymus	thymus
21	chr1:211449400-211482000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:211450400-211480200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:211455000-211486800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211455200-211471200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:211455200-211478600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:211456000-211478200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:211456200-211469600	Strong transcription	Hela-S3	cervix
28	chr1:211456400-211470000	Strong transcription	Primary T cells from cord blood	blood
29	chr1:211456600-211486000	Weak transcription	Small Intestine	intestine
30	chr1:211456800-211470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:211458000-211470600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:211458200-211473000	Strong transcription	NHDF-Ad	bronchial
33	chr1:211459000-211477600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:211459200-211477800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:211460000-211470000	Strong transcription	Osteobl	bone
36	chr1:211460000-211478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:211460000-211478200	Strong transcription	Fetal Intestine Large	intestine
38	chr1:211460200-211470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:211460400-211472000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:211460400-211479600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:211460600-211470200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:211460800-211479600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:211461200-211499600	Weak transcription	Psoas Muscle	Psoas
44	chr1:211461400-211499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:211461600-211499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:211461800-211478600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:211462000-211469600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:211462000-211476200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:211462000-211480200	Strong transcription	HSMM	muscle
50	chr1:211462200-211470000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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