Variant report

Variant	rs6425252
Chromosome Location	chr1:173685971-173685972
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173684233..173685986-chr1:173834072..173838019,3	K562	blood:
2	chr1:173685811..173687806-chr1:173687936..173689496,2	K562	blood:
3	chr1:173684233..173688038-chr1:173834072..173837696,4	K562	blood:
4	chr1:173682535..173686916-chr1:173792397..173795534,7	K562	blood:
5	chr1:173683067..173686676-chr1:173791976..173794755,4	K562	blood:
6	chr1:173680023..173685703-chr1:173685874..173692365,9	K562	blood:

Variant related genes	Relation type
ENSG00000208317	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10082296	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10159349	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13313018	1.00[AMR][1000 genomes]
rs13353004	0.83[AFR][1000 genomes]
rs13374735	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376081	1.00[AMR][1000 genomes]
rs13376339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376392	1.00[AMR][1000 genomes]
rs13376447	1.00[AMR][1000 genomes]
rs2227605	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227621	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34683148	1.00[AMR][1000 genomes]
rs35052032	1.00[AMR][1000 genomes]
rs35133735	1.00[AMR][1000 genomes]
rs4650988	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4652416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6656810	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665497	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349122	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349166	0.91[AFR][1000 genomes]
rs7518933	1.00[AMR][1000 genomes]
rs7525411	0.96[AFR][1000 genomes]
rs7532991	1.00[AMR][1000 genomes]
rs7536930	0.91[AFR][1000 genomes]
rs7540898	1.00[AMR][1000 genomes]
rs9286893	1.00[AMR][1000 genomes]
rs9425412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425417	1.00[AMR][1000 genomes]
rs9425429	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425437	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425733	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425737	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9425739	1.00[AMR][1000 genomes]
rs9425743	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425744	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9425767	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425769	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425771	0.91[AFR][1000 genomes]
rs9425777	0.91[AFR][1000 genomes]
rs9425778	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv1014827	chr1:173653453-173692470	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173683400-173686000	Active TSS	K562	blood
2	chr1:173683400-173686600	Active TSS	GM12878-XiMat	blood
3	chr1:173684000-173686000	Active TSS	HMEC	breast
4	chr1:173684600-173686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:173684800-173686000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:173684800-173687600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
9	chr1:173685000-173686200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:173685000-173686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:173685000-173686200	Flanking Active TSS	Liver	Liver
12	chr1:173685000-173686200	Flanking Active TSS	Dnd41	blood
13	chr1:173685000-173686400	Weak transcription	Gastric	stomach
14	chr1:173685000-173687200	Weak transcription	Lung	lung
15	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
16	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
17	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
18	chr1:173685200-173686000	Enhancers	Fetal Kidney	kidney
19	chr1:173685200-173686000	Weak transcription	NHDF-Ad	bronchial
20	chr1:173685200-173686400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:173685200-173686400	Weak transcription	Ovary	ovary
22	chr1:173685200-173686400	Weak transcription	Right Ventricle	heart
23	chr1:173685200-173686600	Weak transcription	Stomach Mucosa	stomach
24	chr1:173685200-173686800	Enhancers	Brain Angular Gyrus	brain
25	chr1:173685200-173686800	Enhancers	Colon Smooth Muscle	Colon
26	chr1:173685200-173687000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:173685200-173687000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:173685200-173687400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:173685200-173687600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:173685200-173687800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:173685200-173687800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr1:173685200-173689400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:173685200-173690400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:173685200-173692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:173685200-173692200	Weak transcription	Placenta	Placenta
36	chr1:173685200-173693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:173685200-173694000	Weak transcription	Left Ventricle	heart
38	chr1:173685200-173694200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:173685200-173694400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:173685200-173694400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
45	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:173685400-173686000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:173685400-173686000	Enhancers	Fetal Brain Female	brain
48	chr1:173685400-173686000	Weak transcription	Fetal Intestine Small	intestine
49	chr1:173685400-173686000	Enhancers	Fetal Lung	lung
50	chr1:173685400-173686000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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