Variant report

Variant	rs985299
Chromosome Location	chr7:138211801-138211802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138210663..138212174-chr7:138214247..138217057,2	K562	blood:
2	chr7:138205781..138207854-chr7:138211027..138215042,3	K562	blood:
3	chr7:138208149..138212186-chr7:138212617..138217057,4	K562	blood:
4	chr7:138205992..138209636-chr7:138210985..138213741,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10155993	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10215281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10227693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10232771	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10247380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10248731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10258706	0.84[ASN][1000 genomes]
rs1030961	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1077772	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11976614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12112459	0.91[ASN][1000 genomes]
rs12666310	0.86[ASN][1000 genomes]
rs1363053	0.95[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1421604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1544733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673203	0.95[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1673204	0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1673205	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1673206	0.87[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673207	0.82[ASN][1000 genomes]
rs17364560	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs17461551	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1813003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1874326	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2353354	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2353355	0.90[ASN][1000 genomes]
rs3757381	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778705	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3807155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3807156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807157	0.96[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3816192	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55723768	0.87[ASN][1000 genomes]
rs56092804	0.87[ASN][1000 genomes]
rs57407834	0.87[ASN][1000 genomes]
rs58562866	0.91[ASN][1000 genomes]
rs62485263	0.87[ASN][1000 genomes]
rs62485264	0.87[ASN][1000 genomes]
rs62487615	0.84[ASN][1000 genomes]
rs62487616	0.85[ASN][1000 genomes]
rs62487619	0.87[ASN][1000 genomes]
rs6467776	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6467778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6467780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467782	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6467783	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6944764	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6948094	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6954285	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6959574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6963539	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs6970175	0.87[ASN][1000 genomes]
rs6974877	0.87[ASN][1000 genomes]
rs6978524	0.82[ASN][1000 genomes]
rs728092	0.91[ASN][1000 genomes]
rs749546	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7795981	0.87[ASN][1000 genomes]
rs7808392	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs888609	0.83[ASN][1000 genomes]
rs9791462	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9791634	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
2	chr7:138178600-138212200	Weak transcription	NHLF	lung
3	chr7:138190200-138212200	Weak transcription	HMEC	breast
4	chr7:138192000-138212200	Weak transcription	Stomach Mucosa	stomach
5	chr7:138194000-138212000	Weak transcription	NHDF-Ad	bronchial
6	chr7:138195200-138212200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:138197400-138212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:138197600-138212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:138198000-138212200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:138199200-138212200	Weak transcription	Brain Anterior Caudate	brain
12	chr7:138199400-138212400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:138201200-138212200	Strong transcription	Liver	Liver
14	chr7:138202200-138212200	Weak transcription	Small Intestine	intestine
15	chr7:138204400-138212000	Weak transcription	Brain Substantia Nigra	brain
16	chr7:138204400-138212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:138204400-138212200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:138204400-138212400	Weak transcription	NHEK	skin
19	chr7:138204600-138216200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:138204800-138212200	Weak transcription	HUVEC	blood vessel
21	chr7:138204800-138212600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:138205000-138212200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:138205000-138212200	Weak transcription	Psoas Muscle	Psoas
24	chr7:138205000-138212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:138205000-138212400	Weak transcription	Gastric	stomach
26	chr7:138205000-138212600	Weak transcription	Aorta	Aorta
27	chr7:138205400-138212200	Weak transcription	Right Ventricle	heart
28	chr7:138205400-138212600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:138205800-138212400	Weak transcription	HSMMtube	muscle
30	chr7:138206000-138212400	Weak transcription	NH-A	brain
31	chr7:138206200-138212000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:138206200-138212200	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:138206200-138212200	Weak transcription	Osteobl	bone
34	chr7:138206200-138212400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:138207200-138212600	Weak transcription	Fetal Stomach	stomach
36	chr7:138207800-138215800	ZNF genes & repeats	K562	blood
37	chr7:138208200-138212600	Weak transcription	Hela-S3	cervix
38	chr7:138208200-138213800	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr7:138208200-138216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:138208400-138214600	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr7:138208600-138213200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr7:138208600-138214400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr7:138208600-138216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:138209000-138212000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:138209200-138214600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
46	chr7:138209400-138213000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
47	chr7:138209400-138216000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:138209400-138216000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr7:138209400-138216000	ZNF genes & repeats	Dnd41	blood
50	chr7:138209800-138212000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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