Variant report

Variant	rs9661836
Chromosome Location	chr1:226368320-226368321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226363165..226364851-chr1:226366680..226369464,2	MCF-7	breast:
2	chr1:226361074..226366865-chr1:226367198..226369813,7	K562	blood:
3	chr1:226361390..226363312-chr1:226366511..226368877,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10732276	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10799337	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799340	0.88[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10915952	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10915953	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10915954	1.00[CEU][hapmap]
rs12032630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047894	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2306121	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2889539	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3914142	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4653718	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4653722	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9286997	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9286998	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9659225	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9659397	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9660696	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9660874	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9660924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9662709	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9725308	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9725342	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9728014	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9728310	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9729232	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9729554	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9661836	ACBD3	cis	normal skin	skin_eQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226347000-226369600	Weak transcription	Psoas Muscle	Psoas
4	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:226349400-226369200	Weak transcription	Fetal Heart	heart
6	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:226350600-226369000	Weak transcription	Hela-S3	cervix
9	chr1:226350800-226369600	Weak transcription	Right Ventricle	heart
10	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:226352200-226372800	Weak transcription	Fetal Kidney	kidney
12	chr1:226352600-226369200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:226352600-226370000	Weak transcription	Fetal Brain Female	brain
14	chr1:226352600-226370400	Weak transcription	Brain Angular Gyrus	brain
15	chr1:226352600-226372200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:226352600-226372400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:226352600-226372800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:226352600-226373000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:226352600-226373400	Weak transcription	Esophagus	oesophagus
20	chr1:226352800-226372000	Weak transcription	Colonic Mucosa	Colon
21	chr1:226353000-226369400	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:226353000-226369600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:226353000-226370200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:226353000-226372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:226353200-226369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:226353200-226372000	Weak transcription	HUVEC	blood vessel
27	chr1:226353400-226372400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:226353600-226368800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:226353600-226369000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:226353600-226369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:226353600-226369600	Weak transcription	Fetal Lung	lung
32	chr1:226353600-226369800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:226353600-226372000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:226353800-226368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:226353800-226368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:226353800-226369000	Weak transcription	Liver	Liver
37	chr1:226353800-226369600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:226353800-226370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:226353800-226370400	Weak transcription	NH-A	brain
40	chr1:226353800-226372800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:226354000-226370000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:226354000-226372400	Weak transcription	Thymus	Thymus
43	chr1:226354200-226369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226354200-226373000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:226354400-226369000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:226354400-226369200	Weak transcription	NHLF	lung
47	chr1:226354800-226369600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:226358800-226373400	Weak transcription	Gastric	stomach
49	chr1:226360800-226369400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:226360800-226369600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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