Variant report

Variant	rs11624068
Chromosome Location	chr14:77937521-77937522
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	chr14:77933444..77935805-chr14:77937175..77939418,2	MCF-7	breast:
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
ENSG00000165555	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10431633	0.98[AMR][1000 genomes];0.90[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];0.89[EUR][1000 genomes]
rs11159262	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159263	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159264	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622832	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623826	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11624200	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[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	0.81[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]
rs11627385	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433766	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436593	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12590773	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878121	0.92[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];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12886224	0.83[AMR][1000 genomes];0.84[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];0.82[EUR][1000 genomes]
rs176781	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17824034	0.80[EUR][1000 genomes]
rs17824316	0.92[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];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903583	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903584	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903586	0.98[AMR][1000 genomes];0.99[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	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146595	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146784	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016576	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018513	0.85[AMR][1000 genomes];0.92[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: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
rs11624068	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 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	chr14:77930400-77938200	Weak transcription	Fetal Heart	heart
3	chr14:77932200-77937600	Weak transcription	Stomach Mucosa	stomach
4	chr14:77932600-77937600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:77932800-77938400	Weak transcription	Psoas Muscle	Psoas
6	chr14:77933400-77937600	Weak transcription	Fetal Brain Male	brain
7	chr14:77935600-77937800	Weak transcription	HSMM	muscle
8	chr14:77935800-77938200	Weak transcription	Small Intestine	intestine
9	chr14:77935800-77938600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:77935800-77939000	Weak transcription	HUVEC	blood vessel
11	chr14:77935800-77939200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:77935800-77940400	Weak transcription	NHEK	skin
13	chr14:77936000-77937600	Weak transcription	NHDF-Ad	bronchial
14	chr14:77936000-77941000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:77936000-77944600	Weak transcription	GM12878-XiMat	blood
16	chr14:77936200-77937800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:77936200-77937800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:77936200-77937800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:77936200-77937800	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:77936200-77937800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:77936200-77937800	Weak transcription	Esophagus	oesophagus
22	chr14:77936200-77937800	Weak transcription	Fetal Thymus	thymus
23	chr14:77936200-77937800	Weak transcription	Pancreas	Pancrea
24	chr14:77936200-77937800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:77936200-77937800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:77936200-77938000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:77936200-77938000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:77936200-77938200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:77936200-77938200	Weak transcription	Right Ventricle	heart
30	chr14:77936200-77938400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:77936200-77938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:77936200-77938800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:77936200-77938800	Weak transcription	Brain Germinal Matrix	brain
34	chr14:77936200-77939000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:77936200-77939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:77936200-77939000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:77936200-77939000	Weak transcription	NHLF	lung
38	chr14:77936200-77939200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:77936200-77939200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:77936200-77940000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:77936200-77940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:77936200-77940200	Weak transcription	Osteobl	bone
43	chr14:77936200-77940400	Weak transcription	Fetal Kidney	kidney
44	chr14:77936200-77940800	Weak transcription	Placenta	Placenta
45	chr14:77936200-77941000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:77936200-77941000	Weak transcription	Fetal Lung	lung
47	chr14:77936200-77948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:77936400-77937800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:77936400-77938000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:77936400-77938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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