Variant report

Variant	rs11159264
Chromosome Location	chr14:77937017-77937018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77887631..77890364-chr14:77936303..77938183,2	MCF-7	breast:
2	chr14:77922040..77925665-chr14:77935403..77938131,3	MCF-7	breast:
3	chr14:77935817..77939399-chr14:77941876..77944072,3	MCF-7	breast:
4	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
5	chr14:77935677..77938460-chr14:78087456..78089168,2	MCF-7	breast:
6	chr14:77934807..77937271-chr14:78175752..78177718,2	K562	blood:
7	chr14:77935395..77937694-chr14:77986680..77989450,2	K562	blood:
8	chr14:77936196..77939744-chr14:77940216..77943828,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000165555	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10133896	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10431633	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431634	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431726	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1061629	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1061638	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11159258	0.81[EUR][1000 genomes]
rs11159259	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11159261	0.96[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11159262	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159263	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622832	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623826	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624068	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624200	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11625129	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11625365	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627016	0.82[EUR][1000 genomes]
rs11627385	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844594	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12432247	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12433766	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435136	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs12436593	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587525	0.81[CEU][hapmap]
rs12590773	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878121	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879316	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12885869	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12886224	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs147316	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176767	0.89[CEU][hapmap]
rs176768	0.80[EUR][1000 genomes]
rs176772	0.81[EUR][1000 genomes]
rs176773	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176778	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs176781	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17824034	0.96[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes]
rs17824316	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091916	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2193595	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2242619	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364156	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4223	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4369582	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4575469	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4899652	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs4899655	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903576	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4903579	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs4903580	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs4903583	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903584	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574372	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142380	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146595	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146784	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760257	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005759	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs8006688	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8016070	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016576	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018513	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018711	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963283	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

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
rs11159264	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77926000-77939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77926400-77937200	Strong transcription	Primary T cells from cord blood	blood
3	chr14:77926400-77937200	Strong transcription	Liver	Liver
4	chr14:77930400-77938200	Weak transcription	Fetal Heart	heart
5	chr14:77932200-77937600	Weak transcription	Stomach Mucosa	stomach
6	chr14:77932600-77937200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr14:77932600-77937600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:77932800-77938400	Weak transcription	Psoas Muscle	Psoas
9	chr14:77933400-77937200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:77933400-77937600	Weak transcription	Fetal Brain Male	brain
11	chr14:77934800-77937200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:77935600-77937800	Weak transcription	HSMM	muscle
13	chr14:77935800-77937400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:77935800-77938200	Weak transcription	Small Intestine	intestine
15	chr14:77935800-77938600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:77935800-77939000	Weak transcription	HUVEC	blood vessel
17	chr14:77935800-77939200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:77935800-77940400	Weak transcription	NHEK	skin
19	chr14:77936000-77937200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:77936000-77937400	Weak transcription	HSMMtube	muscle
21	chr14:77936000-77937600	Weak transcription	NHDF-Ad	bronchial
22	chr14:77936000-77941000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:77936000-77944600	Weak transcription	GM12878-XiMat	blood
24	chr14:77936200-77937200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:77936200-77937400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr14:77936200-77937800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:77936200-77937800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:77936200-77937800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:77936200-77937800	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:77936200-77937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:77936200-77937800	Weak transcription	Esophagus	oesophagus
32	chr14:77936200-77937800	Weak transcription	Fetal Thymus	thymus
33	chr14:77936200-77937800	Weak transcription	Pancreas	Pancrea
34	chr14:77936200-77937800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr14:77936200-77937800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:77936200-77938000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:77936200-77938000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:77936200-77938200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:77936200-77938200	Weak transcription	Right Ventricle	heart
40	chr14:77936200-77938400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:77936200-77938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:77936200-77938800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:77936200-77938800	Weak transcription	Brain Germinal Matrix	brain
44	chr14:77936200-77939000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:77936200-77939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:77936200-77939000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:77936200-77939000	Weak transcription	NHLF	lung
48	chr14:77936200-77939200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:77936200-77939200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:77936200-77940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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