Variant report

Variant	rs40381
Chromosome Location	chr8:90817433-90817434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90817275..90817869-chr8:91013652..91014304,2	MCF-7	breast:
2	chr8:90768589..90771272-chr8:90816743..90818729,2	MCF-7	breast:
3	chr8:90817329..90819383-chr8:90914251..90916003,2	MCF-7	breast:
4	chr8:90816818..90818597-chr8:90852863..90855109,2	MCF-7	breast:
5	chr8:90815532..90818067-chr8:90995329..90997039,3	MCF-7	breast:
6	chr8:90810531..90814020-chr8:90816566..90819944,3	MCF-7	breast:
7	chr8:90768561..90771004-chr8:90815471..90818085,2	K562	blood:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11989430	0.89[ASN][1000 genomes]
rs13280951	0.83[ASN][1000 genomes]
rs2338882	0.83[ASN][1000 genomes]
rs28144	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28405481	0.89[ASN][1000 genomes]
rs28461337	0.83[ASN][1000 genomes]
rs2975240	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs368812	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs369771	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs370282	0.84[EUR][1000 genomes]
rs376110	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs383592	0.82[EUR][1000 genomes]
rs394108	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs39509	0.82[EUR][1000 genomes]
rs39515	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs39516	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs39767	0.85[EUR][1000 genomes]
rs39768	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs39769	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs400411	0.81[EUR][1000 genomes]
rs402434	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40247	0.81[EUR][1000 genomes]
rs40382	0.82[EUR][1000 genomes]
rs40453	0.81[EUR][1000 genomes]
rs40457	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40547	0.84[EUR][1000 genomes]
rs40636	0.84[EUR][1000 genomes]
rs40637	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs40638	0.84[EUR][1000 genomes]
rs40639	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs411279	0.81[EUR][1000 genomes]
rs416324	0.80[EUR][1000 genomes]
rs421411	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs422559	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42345	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs42346	0.84[EUR][1000 genomes]
rs43135	0.82[EUR][1000 genomes]
rs43226	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs43227	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs43228	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs441548	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs445172	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs445675	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs447611	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs452694	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs453266	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs454561	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs51331	0.82[EUR][1000 genomes]
rs62530862	0.83[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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs40381	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90814000-90817800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:90814600-90823400	Weak transcription	NHDF-Ad	bronchial
5	chr8:90815800-90819800	Enhancers	Placenta	Placenta
6	chr8:90816200-90818000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:90816600-90818600	Enhancers	HUVEC	blood vessel
8	chr8:90817000-90817600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:90817000-90817600	Enhancers	Pancreas	Pancrea
10	chr8:90817000-90817600	Enhancers	Stomach Mucosa	stomach
11	chr8:90817000-90817600	Enhancers	NH-A	brain
12	chr8:90817000-90817800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:90817000-90817800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:90817000-90818000	Enhancers	Osteobl	bone
15	chr8:90817000-90818600	Enhancers	A549	lung
16	chr8:90817000-90818600	Enhancers	HepG2	liver
17	chr8:90817400-90817800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr8:90817400-90818200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:90817400-90825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links