Variant report

Variant	rs11627385
Chromosome Location	chr14:77936343-77936344
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
ENSG00000151445	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000165555	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10431633	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431634	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431726	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1061629	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1061638	1.00[ASN][1000 genomes]
rs11159258	0.81[EUR][1000 genomes]
rs11159259	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11159261	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11159262	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159263	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159264	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622832	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623826	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624200	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11624990	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11625129	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11625365	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627016	0.82[EUR][1000 genomes]
rs12433766	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436593	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12590773	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878121	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879316	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12885869	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12886224	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs147316	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176768	0.80[EUR][1000 genomes]
rs176772	0.81[EUR][1000 genomes]
rs176773	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176778	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs176781	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17824034	0.81[EUR][1000 genomes]
rs17824316	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091916	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242619	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364156	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4223	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4369582	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899655	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903583	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903584	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903586	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574372	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142380	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146595	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146784	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760257	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005759	0.82[EUR][1000 genomes]
rs8006688	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8016070	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016576	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8018711	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963283	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
rs11627385	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77925600-77936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:77925800-77936400	Strong transcription	Fetal Muscle Trunk	muscle
3	chr14:77926000-77936400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:77926000-77936800	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr14:77926000-77936800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:77926000-77939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:77926200-77936400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:77926200-77936400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:77926200-77936400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:77926200-77936400	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:77926200-77936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:77926200-77936800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:77926200-77936800	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr14:77926200-77937000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:77926200-77937000	Strong transcription	Fetal Stomach	stomach
16	chr14:77926200-77937000	Strong transcription	Ovary	ovary
17	chr14:77926400-77936400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:77926400-77936400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:77926400-77936400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:77926400-77936400	Strong transcription	Adipose Nuclei	Adipose
21	chr14:77926400-77936400	Strong transcription	Fetal Brain Female	brain
22	chr14:77926400-77936400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:77926400-77936600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:77926400-77936600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:77926400-77936600	Strong transcription	Brain Hippocampus Middle	brain
26	chr14:77926400-77936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:77926400-77936800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:77926400-77936800	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:77926400-77936800	Strong transcription	A549	lung
30	chr14:77926400-77936800	Strong transcription	NH-A	brain
31	chr14:77926400-77937000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:77926400-77937000	Strong transcription	Brain Substantia Nigra	brain
33	chr14:77926400-77937000	Strong transcription	Spleen	Spleen
34	chr14:77926400-77937200	Strong transcription	Primary T cells from cord blood	blood
35	chr14:77926400-77937200	Strong transcription	Liver	Liver
36	chr14:77926600-77936400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:77926600-77936400	Strong transcription	Primary B cells from cord blood	blood
38	chr14:77926600-77936400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr14:77926600-77936400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:77926600-77936800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:77926600-77937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:77926800-77936400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:77926800-77936400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:77926800-77936400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:77926800-77936400	Strong transcription	Dnd41	blood
46	chr14:77926800-77936600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:77926800-77936800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:77926800-77937000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr14:77926800-77937000	Strong transcription	Left Ventricle	heart
50	chr14:77927400-77936400	Strong transcription	HMEC	breast

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