Variant report

Variant	rs35168775
Chromosome Location	chr8:90716156-90716157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90714137..90717056-chr8:90737564..90740115,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11995065	1.00[ASN][1000 genomes]
rs12156351	0.82[EUR][1000 genomes]
rs13250228	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13256893	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13262484	1.00[ASN][1000 genomes]
rs13265005	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267411	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13270337	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274661	0.93[EUR][1000 genomes]
rs13281958	1.00[ASN][1000 genomes]
rs2230801	1.00[ASN][1000 genomes]
rs34038516	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34099903	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34211510	1.00[ASN][1000 genomes]
rs34541191	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35353289	1.00[ASN][1000 genomes]
rs35469651	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35598276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35643733	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35741091	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35976220	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36032938	1.00[ASN][1000 genomes]
rs36139021	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532080	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62533561	0.92[ASN][1000 genomes]
rs6991439	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6998924	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833230	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841459	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv3340425	chr8:90686312-90722629	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35168775	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90709000-90720200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:90710000-90716200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:90710000-90730000	Weak transcription	HSMMtube	muscle
4	chr8:90710200-90716400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:90710200-90729600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:90710200-90730400	Weak transcription	A549	lung
7	chr8:90710200-90731200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:90710200-90736200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:90711200-90733800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:90711400-90720200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:90713200-90716400	Weak transcription	Spleen	Spleen
12	chr8:90713200-90717600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
14	chr8:90713400-90720400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
17	chr8:90713800-90720400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:90713800-90721000	Weak transcription	Lung	lung
19	chr8:90714000-90719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:90714200-90716400	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:90714200-90717600	Weak transcription	NHLF	lung
22	chr8:90714200-90718600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:90714200-90720400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:90714200-90728000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
26	chr8:90714400-90717000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:90714400-90719000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:90714400-90721800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:90714400-90741000	Weak transcription	Gastric	stomach
30	chr8:90714600-90720000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:90714600-90726600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:90714800-90716400	Weak transcription	Ovary	ovary
33	chr8:90714800-90733000	Weak transcription	Placenta	Placenta
34	chr8:90715000-90720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:90715200-90717200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:90715200-90720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:90715400-90717200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:90715400-90717600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:90715400-90720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:90715600-90716200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:90715600-90717400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:90715600-90717800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:90715600-90717800	Strong transcription	Fetal Stomach	stomach
45	chr8:90715600-90720000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:90715800-90716400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:90715800-90716600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:90715800-90717200	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:90715800-90717200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr8:90715800-90720600	Weak transcription	Fetal Intestine Large	intestine

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