Variant report

Variant	rs3755187
Chromosome Location	chr2:211317210-211317211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10184506	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10195425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10932340	1.00[CEU][hapmap]
rs12694198	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13005638	0.82[EUR][1000 genomes]
rs13013076	0.85[CEU][hapmap]
rs13420747	0.85[JPT][hapmap]
rs1509816	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1858194	0.81[EUR][1000 genomes]
rs1858195	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2160851	1.00[CEU][hapmap]
rs2287426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370962	1.00[CEU][hapmap]
rs2664239	1.00[CEU][hapmap]
rs34374637	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35003355	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732058	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755186	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770686	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770688	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3845634	0.87[CEU][hapmap]
rs3856342	0.81[YRI][hapmap]
rs4672580	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4672581	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4672582	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6749711	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7590759	1.00[CEU][hapmap]
rs759688	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs918234	1.00[CEU][hapmap]
rs9941507	1.00[CEU][hapmap]

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	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3755187	LANCL1	Cis_1M	lymphoblastoid	RTeQTL
rs3755187	LANCL1	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
2	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:211294800-211322200	Weak transcription	K562	blood
4	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
7	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
8	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
9	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:211297400-211321400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:211299400-211322600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:211299600-211322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:211299800-211318600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
17	chr2:211300400-211329800	Weak transcription	A549	lung
18	chr2:211301200-211319200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:211301200-211319200	Weak transcription	Fetal Stomach	stomach
20	chr2:211301200-211322400	Weak transcription	Aorta	Aorta
21	chr2:211301200-211322600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:211301200-211322600	Weak transcription	Pancreas	Pancrea
23	chr2:211301200-211322600	Weak transcription	Spleen	Spleen
24	chr2:211301200-211325400	Weak transcription	Esophagus	oesophagus
25	chr2:211301200-211330000	Weak transcription	Gastric	stomach
26	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:211301400-211318800	Weak transcription	Psoas Muscle	Psoas
30	chr2:211301400-211319000	Weak transcription	Fetal Kidney	kidney
31	chr2:211301400-211319200	Weak transcription	Thymus	Thymus
32	chr2:211301400-211330000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:211301400-211330800	Weak transcription	Right Ventricle	heart
34	chr2:211301400-211334400	Weak transcription	NHEK	skin
35	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:211301800-211318000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:211302200-211319200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:211302600-211318400	Weak transcription	HMEC	breast
39	chr2:211302600-211319000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:211303600-211319200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:211303800-211319000	Weak transcription	NHLF	lung
42	chr2:211304200-211319400	Weak transcription	Hela-S3	cervix
43	chr2:211305200-211318000	Weak transcription	NH-A	brain
44	chr2:211305400-211317800	Weak transcription	Osteobl	bone
45	chr2:211305600-211319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:211305600-211326600	Weak transcription	Brain Germinal Matrix	brain
47	chr2:211305800-211318800	Weak transcription	Left Ventricle	heart
48	chr2:211306000-211318600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:211306000-211319000	Weak transcription	Lung	lung
50	chr2:211306000-211319200	Weak transcription	HSMMtube	muscle

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