Variant report

Variant	rs383592
Chromosome Location	chr8:90804328-90804329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90802147..90804411-chr8:90807957..90809553,2	MCF-7	breast:
2	chr8:90794527..90798218-chr8:90801291..90805045,3	K562	blood:
3	chr8:90800083..90802743-chr8:90803621..90807196,3	MCF-7	breast:
4	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
5	chr8:90767178..90772166-chr8:90803183..90807118,5	MCF-7	breast:
6	chr8:90769927..90772219-chr8:90802189..90804618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1003843	0.86[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs10095743	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10112852	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10504882	0.95[YRI][hapmap]
rs10504883	0.90[YRI][hapmap]
rs13252013	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13252917	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13259882	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13274635	0.92[CEU][hapmap]
rs13279023	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16900480	0.95[YRI][hapmap]
rs16900484	0.95[YRI][hapmap]
rs16900589	0.95[YRI][hapmap]
rs16900592	0.94[YRI][hapmap]
rs16900617	0.83[LWK][hapmap];0.90[YRI][hapmap]
rs218899	0.82[MEX][hapmap]
rs218902	0.82[MEX][hapmap]
rs218905	0.81[EUR][1000 genomes]
rs218907	0.83[EUR][1000 genomes]
rs218908	0.83[EUR][1000 genomes]
rs218909	0.80[EUR][1000 genomes]
rs218910	0.84[AMR][1000 genomes]
rs218913	0.86[GIH][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs218914	0.83[EUR][1000 genomes]
rs218925	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218929	0.86[GIH][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218932	0.83[EUR][1000 genomes]
rs218934	0.83[EUR][1000 genomes]
rs218936	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218938	0.92[CEU][hapmap]
rs2293807	0.84[YRI][hapmap]
rs2644021	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2644033	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735870	0.83[EUR][1000 genomes]
rs2735871	0.83[EUR][1000 genomes]
rs2735873	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735878	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2735882	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs369771	0.85[CEU][hapmap]
rs370282	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs385524	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs394108	0.85[CEU][hapmap]
rs39499	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39500	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39501	0.82[CEU][hapmap]
rs39502	0.82[CEU][hapmap]
rs39503	0.89[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39504	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39505	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39506	0.89[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39508	0.85[CEU][hapmap]
rs39509	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs39515	0.85[CEU][hapmap]
rs397540	0.92[CEU][hapmap]
rs39761	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs39762	0.82[CEU][hapmap]
rs39763	0.92[CEU][hapmap]
rs39766	0.92[CEU][hapmap]
rs39767	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs400411	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40246	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40247	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs402886	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40379	0.92[CEU][hapmap]
rs40380	0.89[CEU][hapmap]
rs40381	0.82[EUR][1000 genomes]
rs40382	0.82[EUR][1000 genomes]
rs40452	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40453	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]
rs40454	0.89[CEU][hapmap]
rs40459	0.83[GIH][hapmap]
rs40544	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40545	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40546	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs40547	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs405734	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40635	0.92[CEU][hapmap]
rs40636	0.83[EUR][1000 genomes]
rs40638	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs411279	0.96[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs411310	0.92[CEU][hapmap]
rs416324	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs419754	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs42343	0.92[CEU][hapmap]
rs42346	0.92[CEU][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.83[EUR][1000 genomes]
rs42479	0.82[CEU][hapmap]
rs42480	0.92[CEU][hapmap]
rs42481	0.83[GIH][hapmap]
rs42490	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs428484	0.92[CEU][hapmap]
rs431264	1.00[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs43133	0.82[CEU][hapmap]
rs43134	0.89[GIH][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs43135	0.82[EUR][1000 genomes]
rs43225	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs434264	0.92[CEU][hapmap]
rs447618	0.89[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs450332	0.92[CEU][hapmap]
rs454441	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs465	0.87[EUR][1000 genomes]
rs51331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470366	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6992985	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6993133	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6998044	0.95[YRI][hapmap]
rs7010806	0.95[YRI][hapmap]
rs7829418	0.84[YRI][hapmap]

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

Variant related diseases (count:1)

Disease	PMID	Source
Leprosy	25642632	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs383592	RIPK2	Cis_1M	lymphoblastoid	RTeQTL
rs383592	RIPK2	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
2	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
3	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
4	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
5	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
9	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
11	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
14	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:90786400-90809800	Weak transcription	HepG2	liver
16	chr8:90792200-90805800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:90793600-90806400	Strong transcription	Liver	Liver
18	chr8:90795000-90805400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:90795000-90808400	Weak transcription	NHEK	skin
20	chr8:90795200-90804600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:90795200-90805400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:90795600-90806400	Strong transcription	Adipose Nuclei	Adipose
23	chr8:90796200-90807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:90796600-90806400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:90797200-90808400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:90798000-90806200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:90798000-90806200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:90798000-90806400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:90798000-90806600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:90798400-90805600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:90798800-90805400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:90799400-90810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:90799400-90814000	Weak transcription	Gastric	stomach
34	chr8:90799800-90806600	Weak transcription	Ovary	ovary
35	chr8:90799800-90811800	Weak transcription	Fetal Kidney	kidney
36	chr8:90800000-90808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:90800800-90806400	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:90801000-90808000	Weak transcription	Fetal Stomach	stomach
39	chr8:90801000-90809600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:90801200-90809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:90801600-90804400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:90801600-90806400	Strong transcription	Primary B cells from cord blood	blood
43	chr8:90802000-90804400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:90802200-90805600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:90802400-90804800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:90802400-90805000	Weak transcription	GM12878-XiMat	blood
47	chr8:90802400-90806600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:90802400-90806600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:90802400-90808000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:90802600-90805000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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