Variant report

Variant	rs12729948
Chromosome Location	chr1:172504106-172504107
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172503645..172508691-chr1:172518673..172522927,5	MCF-7	breast:
3	chr1:172502181..172504109-chr1:172575400..172577552,2	K562	blood:
4	chr1:172501396..172504430-chr1:172536696..172538886,3	MCF-7	breast:
5	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
6	chr1:172503248..172504952-chr1:172533651..172536311,2	K562	blood:
7	chr1:172503233..172505429-chr1:172517362..172521428,4	MCF-7	breast:
8	chr1:172503516..172505222-chr1:172582526..172585193,2	K562	blood:
9	chr1:172418694..172420981-chr1:172502636..172504604,2	K562	blood:
10	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
11	chr1:172410326..172414934-chr1:172499314..172504781,7	K562	blood:
12	chr1:172411064..172415256-chr1:172501216..172504781,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction
ENSG00000251943	Chromatin interaction
ENSG00000135845	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489278	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10489279	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12724887	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12727056	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12729335	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12730136	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12731039	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12731130	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12737154	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12739997	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12740436	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12743641	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12749864	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12750740	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12752056	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12752646	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12753093	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12754650	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12756519	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12758548	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12760161	0.92[ASN][1000 genomes]
rs17370159	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984403	0.83[ASN][1000 genomes]
rs2227189	0.87[ASN][1000 genomes]
rs2516064	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3213552	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34134854	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35702642	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35780299	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754424	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68164208	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs730278	0.81[ASN][1000 genomes]
rs7517917	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7549441	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs763109	0.81[ASN][1000 genomes]

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172500400-172504600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:172500600-172504200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:172500600-172504200	Active TSS	NHDF-Ad	bronchial
4	chr1:172500800-172504200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:172500800-172504200	Active TSS	Fetal Stomach	stomach
6	chr1:172500800-172504400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:172500800-172504400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:172500800-172504400	Active TSS	HMEC	breast
9	chr1:172500800-172504600	Active TSS	Fetal Brain Female	brain
10	chr1:172500800-172504800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:172501000-172504200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:172501000-172504200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:172501000-172504200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:172501000-172504200	Active TSS	GM12878-XiMat	blood
15	chr1:172501000-172504400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:172501000-172504400	Active TSS	NHLF	lung
17	chr1:172501000-172504600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:172501000-172504600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:172501000-172504600	Active TSS	Fetal Intestine Large	intestine
20	chr1:172501000-172504600	Active TSS	NH-A	brain
21	chr1:172501000-172505000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:172501000-172505000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:172501200-172505000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:172501200-172505400	Active TSS	Placenta Amnion	Placenta Amnion
25	chr1:172502200-172505000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:172503000-172504200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:172503000-172504200	Active TSS	Brain Germinal Matrix	brain
28	chr1:172503000-172504600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:172503000-172504800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:172503000-172505000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:172503200-172504200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr1:172503200-172504200	Flanking Active TSS	HUVEC	blood vessel
33	chr1:172503200-172504800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr1:172503200-172504800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:172503200-172504800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:172503200-172506000	Flanking Active TSS	Dnd41	blood
37	chr1:172503200-172509200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:172503400-172504200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:172503400-172504200	Weak transcription	Small Intestine	intestine
40	chr1:172503400-172504200	Weak transcription	Stomach Mucosa	stomach
41	chr1:172503400-172504600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:172503400-172505800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:172503400-172511200	Weak transcription	Spleen	Spleen
44	chr1:172503400-172511400	Weak transcription	Gastric	stomach
45	chr1:172503400-172528600	Weak transcription	Aorta	Aorta
46	chr1:172503400-172528600	Weak transcription	Lung	lung
47	chr1:172503600-172504200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:172503600-172504200	Active TSS	HepG2	liver
49	chr1:172503600-172504400	Flanking Active TSS	NHEK	skin
50	chr1:172503600-172504600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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