Variant report

Variant	rs12073238
Chromosome Location	chr1:169364699-169364700
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169362820..169365561-chr1:169453442..169455657,2	K562	blood:
2	chr1:169363269..169365266-chr1:169367448..169370534,3	K562	blood:

Variant related genes	Relation type
ENSG00000117479	Chromatin interaction
ENSG00000213062	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10919089	1.00[EUR][1000 genomes]
rs10919142	1.00[EUR][1000 genomes]
rs10919161	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10919171	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12068499	1.00[EUR][1000 genomes]
rs12071302	1.00[EUR][1000 genomes]
rs12078569	0.88[AFR][1000 genomes]
rs12081893	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12083695	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12088527	1.00[EUR][1000 genomes]
rs12088713	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095660	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16862184	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16862197	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs975991	1.00[EUR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338000-169365200	Weak transcription	Gastric	stomach
2	chr1:169338000-169365600	Weak transcription	Pancreas	Pancrea
3	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:169340400-169366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:169341200-169367400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:169344800-169365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:169345000-169366000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:169345400-169366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:169345600-169366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169345800-169365000	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:169345800-169365400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:169345800-169366000	Strong transcription	Placenta	Placenta
13	chr1:169345800-169366400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:169346600-169365400	Weak transcription	HepG2	liver
15	chr1:169349400-169366000	Strong transcription	Adipose Nuclei	Adipose
16	chr1:169349400-169367400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:169350200-169366800	Weak transcription	HSMMtube	muscle
18	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon
19	chr1:169352600-169365200	Weak transcription	Spleen	Spleen
20	chr1:169352800-169367400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:169353000-169365200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:169353000-169369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
24	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
25	chr1:169356200-169365400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:169357000-169368200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:169358000-169365600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:169358200-169364800	Strong transcription	Fetal Lung	lung
29	chr1:169358200-169368000	Weak transcription	Esophagus	oesophagus
30	chr1:169359000-169365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:169359200-169365000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:169359200-169366800	Weak transcription	Fetal Brain Male	brain
33	chr1:169359200-169368400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:169359600-169366000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:169359600-169369800	Weak transcription	NHDF-Ad	bronchial
36	chr1:169360400-169366000	Weak transcription	GM12878-XiMat	blood
37	chr1:169360600-169365400	Weak transcription	K562	blood
38	chr1:169360600-169365800	Weak transcription	HUVEC	blood vessel
39	chr1:169360600-169366200	Weak transcription	A549	lung
40	chr1:169360600-169372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:169360800-169364800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:169360800-169365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:169360800-169366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:169360800-169367400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:169360800-169367800	Weak transcription	Psoas Muscle	Psoas
46	chr1:169360800-169369200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:169360800-169370600	Weak transcription	NHLF	lung
48	chr1:169360800-169395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:169361000-169366600	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:169361200-169366800	Weak transcription	Hela-S3	cervix

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