Variant report

Variant	rs327437
Chromosome Location	chr14:81213263-81213264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10083541	1.00[CEU][hapmap]
rs10133019	0.85[AMR][1000 genomes]
rs10133617	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10134279	1.00[CEU][hapmap]
rs10134651	1.00[CEU][hapmap]
rs10136245	1.00[EUR][1000 genomes]
rs10137577	1.00[CEU][hapmap]
rs10137925	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10139735	0.85[AMR][1000 genomes]
rs10140445	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10140767	1.00[CEU][hapmap]
rs10143950	1.00[CEU][hapmap]
rs10144134	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10146558	1.00[CEU][hapmap]
rs10147253	1.00[CEU][hapmap]
rs10148198	1.00[CEU][hapmap]
rs10150034	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10151027	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10151108	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10151668	1.00[CEU][hapmap]
rs10162526	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs10220319	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10220494	1.00[CEU][hapmap]
rs10220635	1.00[CEU][hapmap]
rs12323448	1.00[CEU][hapmap]
rs13379189	1.00[CEU][hapmap]
rs1375628	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs162173	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs162179	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs17110847	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17110881	1.00[CEU][hapmap]
rs17111025	1.00[EUR][1000 genomes]
rs17111027	1.00[CEU][hapmap]
rs17111244	1.00[CEU][hapmap]
rs2197983	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28451264	0.85[AMR][1000 genomes]
rs28459741	0.85[AMR][1000 genomes]
rs28491312	0.92[AFR][1000 genomes]
rs28529404	1.00[EUR][1000 genomes]
rs28607740	0.85[AMR][1000 genomes]
rs28650423	1.00[EUR][1000 genomes]
rs28658278	0.85[AMR][1000 genomes]
rs28665173	0.85[AMR][1000 genomes]
rs327427	0.85[AMR][1000 genomes]
rs327432	1.00[CEU][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs327436	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs327468	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs327471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs370473	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs56933416	1.00[EUR][1000 genomes]
rs57834417	1.00[EUR][1000 genomes]
rs58040173	1.00[EUR][1000 genomes]
rs58133007	1.00[EUR][1000 genomes]
rs58268321	1.00[EUR][1000 genomes]
rs58594627	1.00[EUR][1000 genomes]
rs58679489	1.00[EUR][1000 genomes]
rs60977678	1.00[EUR][1000 genomes]
rs61435414	1.00[EUR][1000 genomes]
rs7155765	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs716483	1.00[CEU][hapmap]
rs73326644	1.00[EUR][1000 genomes]
rs73326672	1.00[EUR][1000 genomes]
rs73328649	1.00[EUR][1000 genomes]
rs73328655	1.00[EUR][1000 genomes]
rs73328682	1.00[EUR][1000 genomes]
rs73330508	1.00[EUR][1000 genomes]
rs73330543	1.00[EUR][1000 genomes]
rs73332696	1.00[EUR][1000 genomes]
rs73334792	1.00[EUR][1000 genomes]
rs73336577	1.00[EUR][1000 genomes]
rs73336590	1.00[EUR][1000 genomes]
rs73336591	1.00[EUR][1000 genomes]
rs73336597	1.00[EUR][1000 genomes]
rs73338156	1.00[EUR][1000 genomes]
rs73338189	1.00[EUR][1000 genomes]
rs73338199	1.00[EUR][1000 genomes]
rs73340105	1.00[EUR][1000 genomes]
rs73340107	1.00[EUR][1000 genomes]
rs73340171	1.00[EUR][1000 genomes]
rs73340175	1.00[EUR][1000 genomes]
rs73340517	1.00[EUR][1000 genomes]
rs73340530	1.00[EUR][1000 genomes]
rs73342195	1.00[EUR][1000 genomes]
rs73342506	1.00[EUR][1000 genomes]
rs73342522	1.00[EUR][1000 genomes]
rs73342549	1.00[EUR][1000 genomes]
rs73342552	1.00[EUR][1000 genomes]
rs73342554	1.00[EUR][1000 genomes]
rs73344006	1.00[EUR][1000 genomes]
rs73344023	1.00[EUR][1000 genomes]
rs73344031	1.00[EUR][1000 genomes]
rs74064297	1.00[EUR][1000 genomes]
rs8020092	1.00[EUR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs327437	SEL1L	cis	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81182800-81224600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:81185800-81221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:81192800-81221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:81193000-81220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:81195400-81223000	Weak transcription	Pancreas	Pancrea
7	chr14:81198200-81220000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
9	chr14:81203800-81229000	Weak transcription	Left Ventricle	heart
10	chr14:81204600-81217600	Strong transcription	Dnd41	blood
11	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:81205200-81222800	Weak transcription	HMEC	breast
13	chr14:81206400-81226800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:81207200-81232600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:81207600-81226200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:81207600-81230800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:81208000-81215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:81208800-81232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:81209400-81227800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:81209400-81229000	Weak transcription	Fetal Lung	lung
23	chr14:81209600-81248200	Weak transcription	HSMM	muscle
24	chr14:81210600-81220400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:81210600-81223400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:81210600-81230400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:81211600-81213800	Weak transcription	Thymus	Thymus
28	chr14:81211600-81215600	Weak transcription	Fetal Thymus	thymus
29	chr14:81211600-81220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:81212800-81227000	Weak transcription	Adipose Nuclei	Adipose
31	chr14:81213200-81213400	Enhancers	HUES6 Cell Line	embryonic stem cell

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