Variant report

Variant	rs17018699
Chromosome Location	chr2:36624559-36624560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36622875..36625167-chr2:36629133..36630867,2	K562	blood:
2	chr2:36624404..36627384-chr2:36629683..36631735,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11124512	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11673762	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs11682688	0.83[TSI][hapmap]
rs1523788	0.82[EUR][1000 genomes]
rs17018688	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17018723	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110928	0.82[EUR][1000 genomes]
rs2192920	0.91[EUR][1000 genomes]
rs3770883	0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770884	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs3770887	0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap]
rs3770888	0.91[CHB][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs3770891	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs3770899	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs3770903	0.87[EUR][1000 genomes]
rs3770910	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770922	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770926	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770927	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770930	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3770937	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821157	0.88[MEX][hapmap];0.85[TSI][hapmap]
rs3821163	0.80[CHD][hapmap]
rs3821164	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670552	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs57785523	0.81[EUR][1000 genomes]
rs876458	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2756915	chr2:36622906-36657305	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759041	chr2:36622906-36657305	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17018699	CRIM1	cis	lymphoblastoid	seeQTL
rs17018699	SCARB1	trans	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
5	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:36616800-36631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:36616800-36635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:36617000-36633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:36617200-36625000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:36617200-36630800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:36617200-36631200	Weak transcription	Fetal Kidney	kidney
12	chr2:36617200-36633800	Weak transcription	Fetal Lung	lung
13	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
16	chr2:36619800-36625400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:36620200-36626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:36620200-36635000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:36620800-36629200	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr2:36621000-36630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:36621000-36631400	Weak transcription	Fetal Brain Female	brain
22	chr2:36621000-36635000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:36621000-36635200	Weak transcription	Lung	lung
24	chr2:36621200-36625000	Weak transcription	Right Ventricle	heart
25	chr2:36621200-36628000	Weak transcription	Ovary	ovary
26	chr2:36621200-36629000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:36621200-36630800	Weak transcription	Spleen	Spleen
28	chr2:36621200-36634800	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:36621200-36634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:36621200-36635000	Weak transcription	Fetal Stomach	stomach
31	chr2:36622000-36626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:36622200-36624800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:36622600-36624600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:36622600-36624800	Genic enhancers	HSMM	muscle
35	chr2:36622600-36628000	Genic enhancers	NHDF-Ad	bronchial
36	chr2:36622600-36630600	Genic enhancers	HUVEC	blood vessel
37	chr2:36622800-36624600	Genic enhancers	NHEK	skin
38	chr2:36622800-36625200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:36622800-36629000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:36622800-36629400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:36622800-36630600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:36622800-36631400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:36623000-36624600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:36623000-36632200	Weak transcription	Right Atrium	heart
45	chr2:36623200-36625200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:36623400-36626000	Enhancers	Stomach Mucosa	stomach
47	chr2:36623400-36629600	Strong transcription	Placenta	Placenta
48	chr2:36623600-36624600	Flanking Active TSS	Hela-S3	cervix
49	chr2:36623600-36624800	Genic enhancers	HSMMtube	muscle
50	chr2:36623600-36625200	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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