Variant report

Variant	rs3823812
Chromosome Location	chr7:99278314-99278315
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99277694..99280617-chr7:99280662..99284055,5	K562	blood:
2	chr7:99214995..99216621-chr7:99278112..99280830,2	MCF-7	breast:
3	chr7:99274008..99275570-chr7:99277098..99278652,2	K562	blood:

Variant related genes	Relation type
ENSG00000106258	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10211	0.81[ASN][1000 genomes]
rs10225314	0.92[EUR][1000 genomes]
rs10229552	0.82[ASN][1000 genomes]
rs10242455	0.82[ASN][1000 genomes]
rs10282706	0.80[ASN][1000 genomes]
rs10464604	0.92[EUR][1000 genomes]
rs11539770	0.92[EUR][1000 genomes]
rs12334077	0.81[ASN][1000 genomes]
rs12360	0.81[ASN][1000 genomes]
rs13362853	0.80[ASN][1000 genomes]
rs1403196	0.81[ASN][1000 genomes]
rs1419745	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs15524	0.82[ASN][1000 genomes]
rs17161766	0.84[EUR][1000 genomes]
rs17161768	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161769	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161771	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161772	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17161780	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17161783	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1818797	0.81[ASN][1000 genomes]
rs1851425	0.81[ASN][1000 genomes]
rs1851427	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1879859	0.83[ASN][1000 genomes]
rs2005548	0.83[ASN][1000 genomes]
rs2177180	0.81[ASN][1000 genomes]
rs2257401	0.81[ASN][1000 genomes]
rs2687076	0.81[ASN][1000 genomes]
rs2687077	0.81[ASN][1000 genomes]
rs2687078	0.81[ASN][1000 genomes]
rs2687079	0.81[ASN][1000 genomes]
rs2687081	0.81[ASN][1000 genomes]
rs2687084	0.81[ASN][1000 genomes]
rs2687085	0.81[ASN][1000 genomes]
rs2687086	0.83[ASN][1000 genomes]
rs2687087	0.81[ASN][1000 genomes]
rs2740565	0.83[ASN][1000 genomes]
rs2948343	0.81[ASN][1000 genomes]
rs2948344	0.81[ASN][1000 genomes]
rs3735453	0.80[ASN][1000 genomes]
rs3800960	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41301658	0.81[AFR][1000 genomes]
rs45442295	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45460091	0.81[AFR][1000 genomes]
rs45492098	0.92[EUR][1000 genomes]
rs45540134	0.92[EUR][1000 genomes]
rs45600842	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45622743	0.92[EUR][1000 genomes]
rs4646440	0.85[AFR][1000 genomes]
rs4646446	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4646449	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4646450	0.82[ASN][1000 genomes]
rs4646453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4646456	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646457	0.82[ASN][1000 genomes]
rs4646458	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646462	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4646465	0.81[ASN][1000 genomes]
rs58024720	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58222677	0.92[EUR][1000 genomes]
rs59172435	0.89[ASN][1000 genomes]
rs60298785	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60301933	0.82[AMR][1000 genomes]
rs60865030	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61159815	0.92[EUR][1000 genomes]
rs61337492	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61402640	0.92[EUR][1000 genomes]
rs61543997	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61593387	0.89[ASN][1000 genomes]
rs6465750	0.83[ASN][1000 genomes]
rs72494451	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494452	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72494453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72494454	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72494456	0.89[ASN][1000 genomes]
rs776741	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776742	0.83[ASN][1000 genomes]
rs776744	0.83[ASN][1000 genomes]
rs776745	0.83[ASN][1000 genomes]
rs776746	0.86[ASN][1000 genomes]
rs7798931	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8175346	0.82[EUR][1000 genomes]
rs939955	0.89[ASN][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	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv970911	chr7:99275492-99333590	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99243000-99278800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:99273800-99290400	Weak transcription	Primary T cells from cord blood	blood
3	chr7:99276800-99278400	Enhancers	Psoas Muscle	Psoas
4	chr7:99277000-99295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99277200-99281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:99277200-99282800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:99277400-99278400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr7:99277600-99278400	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:99277600-99278400	Enhancers	Fetal Intestine Large	intestine
10	chr7:99277600-99278400	Enhancers	Stomach Mucosa	stomach
11	chr7:99277800-99279200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:99277800-99279200	Weak transcription	A549	lung
13	chr7:99277800-99282400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:99278000-99278400	Enhancers	Liver	Liver
15	chr7:99278000-99290800	Weak transcription	Pancreas	Pancrea
16	chr7:99278200-99278600	Enhancers	K562	blood
17	chr7:99278200-99283000	Weak transcription	HepG2	liver

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