Variant report

Variant	rs40453
Chromosome Location	chr8:90802045-90802046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90801163..90803261-chr8:90961126..90962760,2	MCF-7	breast:
2	chr8:90794527..90798218-chr8:90801291..90805045,3	K562	blood:
3	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
4	chr8:90791423..90793075-chr8:90800712..90802481,2	MCF-7	breast:
5	chr8:90801418..90803391-chr8:90808526..90811319,2	MCF-7	breast:
6	chr8:90800083..90802743-chr8:90803621..90807196,3	MCF-7	breast:
7	chr8:90801184..90803292-chr8:90992105..90995010,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1003843	1.00[ASW][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10095743	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10112852	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13252013	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13252917	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13259882	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13274635	0.88[CEU][hapmap]
rs13279023	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1397308	0.84[MEX][hapmap]
rs218899	0.91[MEX][hapmap];0.81[AMR][1000 genomes]
rs218900	0.81[AMR][1000 genomes]
rs218901	0.81[AMR][1000 genomes]
rs218902	0.87[MEX][hapmap];0.81[AMR][1000 genomes]
rs218903	0.80[GIH][hapmap]
rs218905	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs218907	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218908	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218909	0.92[AMR][1000 genomes]
rs218913	0.93[GIH][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs218914	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218925	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218929	0.93[GIH][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218932	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218934	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218936	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218938	0.89[CEU][hapmap]
rs2644021	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2644033	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735870	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735871	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735873	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735878	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735882	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28144	0.80[AMR][1000 genomes]
rs367640	1.00[YRI][hapmap]
rs369771	0.81[CEU][hapmap]
rs370282	0.88[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs383592	0.96[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs385524	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs388866	1.00[YRI][hapmap]
rs394108	0.81[CEU][hapmap];0.85[AMR][1000 genomes]
rs39499	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs39500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39503	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39504	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39505	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39506	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39508	0.82[CEU][hapmap]
rs39509	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39515	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs397540	0.89[CEU][hapmap]
rs39761	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs39763	0.89[CEU][hapmap]
rs39766	0.89[CEU][hapmap]
rs39767	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs400411	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40246	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40247	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs40250	1.00[YRI][hapmap]
rs402886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40379	0.89[CEU][hapmap]
rs40380	0.85[CEU][hapmap]
rs40381	0.81[EUR][1000 genomes]
rs40382	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs40452	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40454	0.85[CEU][hapmap]
rs40459	0.84[GIH][hapmap]
rs40544	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40545	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40547	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs405734	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40635	0.89[CEU][hapmap]
rs40636	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40638	0.88[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs411279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs411310	0.89[CEU][hapmap]
rs416324	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs419754	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs42343	0.89[CEU][hapmap]
rs42346	0.88[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs42480	0.89[CEU][hapmap]
rs42481	0.84[GIH][hapmap]
rs42490	0.88[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs427854	1.00[YRI][hapmap]
rs428484	0.88[CEU][hapmap]
rs431264	0.82[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs43134	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs43135	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs43225	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs43227	0.80[AMR][1000 genomes]
rs434264	0.89[CEU][hapmap]
rs447618	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs450332	0.88[CEU][hapmap]
rs454441	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs465	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs51331	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6470366	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6992985	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6993133	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs40453	RIPK2	Cis_1M	lymphoblastoid	RTeQTL
rs40453	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs40453	RIPK2	cis	cerebellum	SCAN
rs40453	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
3	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
4	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
5	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
6	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
7	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
11	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:90779600-90802200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
14	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:90783600-90803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
17	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
20	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:90786400-90809800	Weak transcription	HepG2	liver
22	chr8:90792000-90804200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:90792200-90802600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:90792200-90805800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:90793600-90806400	Strong transcription	Liver	Liver
26	chr8:90794400-90802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:90794800-90802200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:90794800-90802200	Weak transcription	Thymus	Thymus
29	chr8:90795000-90802200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:90795000-90802400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:90795000-90803400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:90795000-90805400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:90795000-90808400	Weak transcription	NHEK	skin
34	chr8:90795200-90804600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:90795200-90805400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:90795600-90806400	Strong transcription	Adipose Nuclei	Adipose
37	chr8:90796200-90807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:90796600-90802800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:90796600-90803000	Strong transcription	Placenta	Placenta
40	chr8:90796600-90806400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:90796800-90802600	Strong transcription	Fetal Muscle Leg	muscle
42	chr8:90796800-90802600	Strong transcription	Lung	lung
43	chr8:90797000-90802600	Strong transcription	Fetal Intestine Large	intestine
44	chr8:90797000-90802600	Strong transcription	Left Ventricle	heart
45	chr8:90797200-90808400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:90797400-90804000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:90797600-90803800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:90797800-90802600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:90798000-90806200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:90798000-90806200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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