Variant report

Variant	rs7787525
Chromosome Location	chr7:99493660-99493661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99493415..99495874-chr7:99516388..99518156,3	MCF-7	breast:
2	chr7:99493289..99496091-chr7:99505749..99508746,2	K562	blood:
3	chr7:99488840..99491741-chr7:99492480..99496250,3	K562	blood:
4	chr7:99491373..99493924-chr7:99497017..99498799,2	K562	blood:
5	chr7:99363955..99367297-chr7:99492725..99495591,3	K562	blood:

Variant related genes	Relation type
ENSG00000273407	Chromatin interaction
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10215184	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10225908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	1.00[ASN][1000 genomes]
rs10272125	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505840	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11974610	0.88[LWK][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap]
rs11977827	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11980179	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17161997	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28449324	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28988579	1.00[ASN][1000 genomes]
rs34288759	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	1.00[ASN][1000 genomes]
rs35649099	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs480596	1.00[ASN][1000 genomes]
rs487813	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs496000	1.00[CHB][hapmap]
rs501275	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs516481	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517284	1.00[ASN][1000 genomes]
rs523407	1.00[ASN][1000 genomes]
rs528144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs545400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs549061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs558002	1.00[ASN][1000 genomes]
rs558112	1.00[ASN][1000 genomes]
rs559239	0.85[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565079	1.00[ASN][1000 genomes]
rs568859	1.00[ASN][1000 genomes]
rs57256111	1.00[ASN][1000 genomes]
rs57772941	1.00[ASN][1000 genomes]
rs579424	1.00[ASN][1000 genomes]
rs580123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs583353	1.00[ASN][1000 genomes]
rs585071	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs599151	1.00[ASN][1000 genomes]
rs613963	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs641761	1.00[ASN][1000 genomes]
rs642761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs646563	1.00[ASN][1000 genomes]
rs648515	1.00[ASN][1000 genomes]
rs660629	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs663476	1.00[ASN][1000 genomes]
rs663493	1.00[ASN][1000 genomes]
rs663495	1.00[ASN][1000 genomes]
rs66629054	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs66953435	1.00[ASN][1000 genomes]
rs671673	1.00[ASN][1000 genomes]
rs675644	1.00[ASN][1000 genomes]
rs678040	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs679320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs680055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs687134	1.00[ASN][1000 genomes]
rs688926	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694924	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694939	1.00[ASN][1000 genomes]
rs6957718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960775	1.00[ASN][1000 genomes]
rs7798789	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800666	1.00[ASN][1000 genomes]
rs800667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs800673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1792388	chr7:99468155-99497338	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7787525	ARPC1B	cis	Thyroid	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99479800-99499200	Weak transcription	Small Intestine	intestine
2	chr7:99485200-99499000	Weak transcription	Psoas Muscle	Psoas
3	chr7:99485600-99498200	Weak transcription	NHDF-Ad	bronchial
4	chr7:99485800-99495400	Weak transcription	GM12878-XiMat	blood
5	chr7:99485800-99498200	Weak transcription	HSMMtube	muscle
6	chr7:99485800-99498800	Weak transcription	K562	blood
7	chr7:99486000-99497400	Weak transcription	Esophagus	oesophagus
8	chr7:99486400-99501000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:99486600-99498000	Weak transcription	NH-A	brain
10	chr7:99486800-99498800	Weak transcription	HUVEC	blood vessel
11	chr7:99486800-99499200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:99487600-99496600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:99487600-99498200	Weak transcription	HSMM	muscle
14	chr7:99487800-99497000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:99487800-99497800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:99487800-99498200	Weak transcription	HepG2	liver
17	chr7:99488000-99495400	Weak transcription	Primary B cells from cord blood	blood
18	chr7:99488000-99495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:99488000-99496000	Weak transcription	Fetal Intestine Large	intestine
20	chr7:99488000-99497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:99488000-99497600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:99488000-99499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:99488200-99497200	Weak transcription	Colonic Mucosa	Colon
24	chr7:99488400-99497200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:99488400-99497600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:99488400-99497600	Weak transcription	Fetal Brain Male	brain
27	chr7:99488400-99498200	Weak transcription	Fetal Heart	heart
28	chr7:99488400-99499000	Weak transcription	Fetal Kidney	kidney
29	chr7:99488600-99495400	Weak transcription	Fetal Brain Female	brain
30	chr7:99488600-99497800	Weak transcription	Osteobl	bone
31	chr7:99489000-99497600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:99489200-99497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:99489400-99498400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:99489400-99498400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:99489800-99494600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:99490000-99495400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:99490000-99495400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:99490000-99495400	Weak transcription	Pancreas	Pancrea
39	chr7:99490000-99495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:99490000-99496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:99490000-99496600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:99490000-99497200	Weak transcription	Dnd41	blood
43	chr7:99490000-99498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:99490000-99498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:99490200-99495200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:99490200-99495400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:99490200-99495400	Weak transcription	Fetal Intestine Small	intestine
48	chr7:99490200-99495600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:99490200-99495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:99490200-99495600	Weak transcription	Brain Germinal Matrix	brain

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