Variant report

Variant	rs4899396
Chromosome Location	chr14:71964836-71964837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71956888..71959124-chr14:71962522..71965043,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10130652	0.83[EUR][1000 genomes]
rs10143346	0.81[EUR][1000 genomes]
rs11628525	0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs12878009	0.92[CEU][hapmap];0.89[CHB][hapmap]
rs12897119	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs193440	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs2041330	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs2108048	0.90[EUR][1000 genomes]
rs3088206	0.83[EUR][1000 genomes]
rs36528	0.85[EUR][1000 genomes]
rs36532	0.89[EUR][1000 genomes]
rs36535	0.83[EUR][1000 genomes]
rs4464023	0.92[CEU][hapmap];0.90[CHB][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs7141155	0.81[GIH][hapmap];0.80[MEX][hapmap]
rs7145435	0.92[CEU][hapmap]
rs7150965	0.92[CEU][hapmap]
rs8007521	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs8016217	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap]
rs8023058	0.88[CEU][hapmap];0.90[CHB][hapmap];0.80[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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4899396	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71935400-71980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:71954400-71978200	Weak transcription	Primary T cells from cord blood	blood
4	chr14:71956000-71971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:71956000-71979800	Weak transcription	Aorta	Aorta
6	chr14:71959000-71967200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:71959400-71965000	Weak transcription	Brain Angular Gyrus	brain
8	chr14:71959400-71977600	Weak transcription	Fetal Brain Male	brain
9	chr14:71959600-71965000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:71961000-71965000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:71963000-71979600	Weak transcription	Primary B cells from cord blood	blood
12	chr14:71963200-71966400	Enhancers	Dnd41	blood
13	chr14:71963800-71966200	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:71964000-71965400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:71964000-71965600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:71964000-71966200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:71964000-71966200	Flanking Active TSS	GM12878-XiMat	blood
18	chr14:71964200-71965000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:71964200-71965200	Enhancers	HSMM	muscle
20	chr14:71964200-71965400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:71964200-71965400	Enhancers	Fetal Lung	lung
22	chr14:71964200-71965400	Enhancers	HMEC	breast
23	chr14:71964200-71965400	Enhancers	NH-A	brain
24	chr14:71964200-71965600	Enhancers	Brain Hippocampus Middle	brain
25	chr14:71964200-71965600	Enhancers	NHDF-Ad	bronchial
26	chr14:71964200-71965800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:71964200-71966200	Enhancers	NHEK	skin
28	chr14:71964400-71965000	Enhancers	Small Intestine	intestine
29	chr14:71964400-71965200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr14:71964400-71965200	Enhancers	Brain Substantia Nigra	brain
31	chr14:71964400-71965400	Enhancers	Brain Anterior Caudate	brain
32	chr14:71964400-71965400	Enhancers	Colon Smooth Muscle	Colon
33	chr14:71964400-71965600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:71964400-71965600	Enhancers	Rectal Smooth Muscle	rectum
35	chr14:71964400-71966200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:71964600-71965000	Enhancers	HSMMtube	muscle
37	chr14:71964600-71965200	Flanking Active TSS	Fetal Heart	heart
38	chr14:71964600-71965200	Enhancers	Fetal Stomach	stomach
39	chr14:71964600-71965400	Flanking Active TSS	Osteobl	bone
40	chr14:71964600-71965600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:71964800-71965400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:71964800-71965400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr14:71964800-71979600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:71964800-71979600	Weak transcription	Hela-S3	cervix

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