Variant report

Variant	rs11159268
Chromosome Location	chr14:77974181-77974182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10145609	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs1063270	1.00[CHB][hapmap]
rs1063271	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs11159269	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs11845884	1.00[ASN][1000 genomes]
rs12433806	1.00[CHB][hapmap]
rs12435437	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs12436626	1.00[CHB][hapmap]
rs12587525	0.92[YRI][hapmap]
rs12884353	0.86[EUR][1000 genomes]
rs12887556	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751319	1.00[CHB][hapmap]
rs17751370	1.00[CHB][hapmap]
rs17751562	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs17824358	1.00[CHB][hapmap]
rs2017446	0.82[EUR][1000 genomes]
rs2364602	1.00[CHB][hapmap]
rs3742728	0.87[CEU][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs3742729	1.00[CHB][hapmap]
rs3742731	1.00[CHB][hapmap]
rs3742732	1.00[CHB][hapmap]
rs4531669	1.00[CHB][hapmap]
rs6574383	1.00[CHB][hapmap]
rs8003820	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs8007669	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011528	1.00[CHB][hapmap]
rs8177539	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11159268	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77965600-77977600	Weak transcription	Aorta	Aorta
2	chr14:77965800-77974600	Weak transcription	A549	lung
3	chr14:77966000-77977400	Weak transcription	HMEC	breast
4	chr14:77966400-77976800	Weak transcription	Spleen	Spleen
5	chr14:77966400-77977000	Weak transcription	Pancreas	Pancrea
6	chr14:77966400-77977600	Weak transcription	Gastric	stomach
7	chr14:77966600-77977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:77966600-77977600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:77966600-77977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:77967000-77974200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:77967200-77978000	Weak transcription	Stomach Mucosa	stomach
12	chr14:77967400-77974600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:77967400-77977000	Weak transcription	NH-A	brain
14	chr14:77968000-77976400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:77968200-77977600	Weak transcription	Small Intestine	intestine
16	chr14:77968400-77974400	Weak transcription	HUVEC	blood vessel
17	chr14:77968400-77977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:77968400-77977600	Weak transcription	GM12878-XiMat	blood
19	chr14:77968400-77977800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:77968600-77977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:77968800-77974400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:77969000-77975200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:77969000-77977000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:77969000-77977600	Weak transcription	Thymus	Thymus
25	chr14:77969400-77974600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:77969400-77977000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:77969400-77977000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:77969400-77977600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:77969400-77977800	Weak transcription	NHEK	skin
30	chr14:77969600-77977400	Weak transcription	NHDF-Ad	bronchial
31	chr14:77969600-77977600	Weak transcription	Brain Anterior Caudate	brain
32	chr14:77969600-77977600	Weak transcription	NHLF	lung
33	chr14:77969800-77974400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:77969800-77974600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:77969800-77977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:77970000-77975000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:77970200-77977600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:77970200-77977600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:77970200-77977600	Weak transcription	Colonic Mucosa	Colon
40	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
41	chr14:77970400-77974400	Weak transcription	Brain Germinal Matrix	brain
42	chr14:77970400-77974400	Weak transcription	Fetal Lung	lung
43	chr14:77970400-77977800	Weak transcription	Right Ventricle	heart
44	chr14:77970600-77974200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:77970600-77974400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:77970600-77974400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:77970600-77975000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:77970600-77977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:77970600-77977800	Weak transcription	Fetal Kidney	kidney
50	chr14:77970600-77979200	Strong transcription	HSMM	muscle

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