Variant report

Variant	rs2287426
Chromosome Location	chr2:211325654-211325655
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:211325572..211327768-chr2:211338184..211340482,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10184506	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10195425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515951	0.88[TSI][hapmap]
rs10932340	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs12694198	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12694200	0.80[EUR][1000 genomes]
rs13005638	0.85[EUR][1000 genomes]
rs13013076	0.85[CEU][hapmap]
rs13420747	0.85[JPT][hapmap]
rs1509816	1.00[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs1858194	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1858195	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2160851	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2287427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370962	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2664239	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs34374637	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35003355	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3732058	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755185	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755186	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755187	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]
rs3770686	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770688	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770693	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3845634	0.87[CEU][hapmap]
rs4640325	0.88[TSI][hapmap]
rs4672580	0.82[EUR][1000 genomes]
rs4672581	0.82[EUR][1000 genomes]
rs4672582	0.82[EUR][1000 genomes]
rs6749711	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7590759	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs759688	1.00[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs918234	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs9941507	1.00[CEU][hapmap];0.88[TSI][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2287426	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	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
5	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
6	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
7	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
11	chr2:211300400-211329800	Weak transcription	A549	lung
12	chr2:211301200-211330000	Weak transcription	Gastric	stomach
13	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:211301400-211330000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:211301400-211330800	Weak transcription	Right Ventricle	heart
18	chr2:211301400-211334400	Weak transcription	NHEK	skin
19	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:211305600-211326600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:211306000-211330000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:211306200-211326800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:211308000-211332400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:211314200-211328800	Strong transcription	Primary T cells from cord blood	blood
25	chr2:211314400-211327000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:211315400-211327200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:211315600-211337800	Strong transcription	Fetal Thymus	thymus
29	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:211315800-211337200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:211315800-211337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:211316000-211338000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:211316200-211326800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:211316200-211337800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:211316200-211337800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:211316400-211327200	Strong transcription	Fetal Intestine Large	intestine
37	chr2:211316600-211339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:211316800-211327200	Strong transcription	Fetal Lung	lung
39	chr2:211316800-211338800	Strong transcription	Dnd41	blood
40	chr2:211317000-211326200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:211318000-211337800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:211319600-211330000	Weak transcription	NH-A	brain
43	chr2:211320000-211330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:211320000-211331000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:211320000-211331200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:211320000-211333200	Weak transcription	NHLF	lung
47	chr2:211320400-211329800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:211321000-211329400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:211321000-211331400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:211321000-211334200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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