Variant report

Variant	rs2230801
Chromosome Location	chr8:90784979-90784980
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90783485..90785142-chr8:90786995..90789489,2	K562	blood:
2	chr8:90783067..90785641-chr8:90833540..90835924,2	MCF-7	breast:
3	chr8:90783108..90785174-chr8:90996536..90998062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11995065	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250228	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256893	0.84[ASN][1000 genomes]
rs13262484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265005	1.00[ASN][1000 genomes]
rs13267411	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270337	1.00[ASN][1000 genomes]
rs13281958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038516	1.00[ASN][1000 genomes]
rs34099903	0.84[ASN][1000 genomes]
rs34211510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34541191	0.84[ASN][1000 genomes]
rs35168775	1.00[ASN][1000 genomes]
rs35353289	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35469651	0.84[ASN][1000 genomes]
rs35598276	1.00[ASN][1000 genomes]
rs35643733	1.00[ASN][1000 genomes]
rs35741091	1.00[ASN][1000 genomes]
rs35976220	0.84[ASN][1000 genomes]
rs36032938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36139021	1.00[ASN][1000 genomes]
rs62532080	1.00[ASN][1000 genomes]
rs62532117	1.00[ASN][1000 genomes]
rs62533561	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6991439	0.84[ASN][1000 genomes]
rs6998924	0.84[ASN][1000 genomes]
rs7833230	1.00[ASN][1000 genomes]
rs7841459	0.85[EUR][1000 genomes];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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2230801	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
4	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:90772000-90796800	Weak transcription	Lung	lung
7	chr8:90772000-90797000	Weak transcription	Ovary	ovary
8	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
11	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
12	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
13	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
14	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
15	chr8:90772400-90785200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:90772400-90787200	Weak transcription	Fetal Stomach	stomach
17	chr8:90772400-90790600	Weak transcription	NHEK	skin
18	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:90773000-90785200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:90773000-90785200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:90774200-90785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
26	chr8:90774400-90793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:90776400-90793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:90776400-90799800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:90776600-90785200	Weak transcription	Brain Substantia Nigra	brain
31	chr8:90776600-90785400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:90777000-90786200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:90777200-90787200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:90777200-90787400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:90777400-90789400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:90778600-90785400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:90778600-90785400	Weak transcription	Fetal Kidney	kidney
38	chr8:90778800-90785400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:90778800-90785600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:90778800-90786200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:90779000-90785200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:90779000-90785600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:90779000-90801200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:90779200-90785200	Weak transcription	Primary T cells from cord blood	blood
45	chr8:90779200-90786600	Weak transcription	NHLF	lung
46	chr8:90779200-90793200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:90779200-90793400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:90779200-90793800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:90779600-90802200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:90781200-90786400	Strong transcription	NHDF-Ad	bronchial

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