Variant report

Variant	rs242392
Chromosome Location	chr14:56649451-56649452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56649412..56651282-chr14:56653289..56655501,2	K562	blood:
2	chr14:56649381..56651090-chr14:56683984..56685910,2	K562	blood:
3	chr14:56637508..56640362-chr14:56648471..56651098,2	K562	blood:
4	chr14:56648236..56651090-chr14:56684410..56686125,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs242390	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242394	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs242398	0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs242400	0.80[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242410	0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs242413	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs242592	0.84[MEX][hapmap]
rs3783668	0.84[MEX][hapmap]
rs402332	0.84[AMR][1000 genomes]
rs429676	0.84[MEX][hapmap]
rs4901649	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4901667	0.82[JPT][hapmap]
rs754689	0.84[MEX][hapmap]
rs754690	0.84[MEX][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs242392	SLC35F4	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56635000-56654600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56639200-56662000	Weak transcription	Right Ventricle	heart
3	chr14:56639400-56652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:56639400-56659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:56640000-56652400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:56640000-56652600	Weak transcription	Brain Anterior Caudate	brain
7	chr14:56640000-56652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:56640000-56659800	Weak transcription	Fetal Intestine Large	intestine
9	chr14:56640000-56661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:56640400-56649600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:56640400-56661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:56640600-56655800	Weak transcription	NHLF	lung
13	chr14:56640800-56653000	Weak transcription	Primary T cells from cord blood	blood
14	chr14:56641000-56660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:56643400-56662000	Weak transcription	Spleen	Spleen
16	chr14:56643600-56652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:56643600-56655800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:56643600-56662000	Weak transcription	Fetal Kidney	kidney
19	chr14:56644000-56652200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:56644000-56662000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:56644200-56652200	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:56644200-56660600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:56644800-56661000	Weak transcription	Fetal Brain Female	brain
24	chr14:56645000-56649800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:56645200-56652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:56645400-56660800	Weak transcription	Lung	lung
27	chr14:56645600-56652800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:56645600-56654800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:56645600-56659800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:56645600-56661200	Weak transcription	Fetal Stomach	stomach
31	chr14:56645600-56662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:56647000-56649800	Genic enhancers	Dnd41	blood
33	chr14:56647200-56649800	Enhancers	Gastric	stomach
34	chr14:56647200-56649800	Enhancers	Ovary	ovary
35	chr14:56647200-56662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:56647400-56649800	Enhancers	Aorta	Aorta
37	chr14:56647600-56652800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr14:56647600-56662000	Weak transcription	Left Ventricle	heart
39	chr14:56647800-56650000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:56647800-56652800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:56647800-56652800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:56647800-56657800	Weak transcription	Fetal Thymus	thymus
43	chr14:56648000-56649800	Enhancers	Pancreas	Pancrea
44	chr14:56648000-56661800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:56648200-56659800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:56648200-56665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:56648400-56656000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:56648800-56649600	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:56649000-56652000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:56649000-56655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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