Variant report

Variant	rs4983418
Chromosome Location	chr14:105943679-105943680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr14:105939677-105943703	IMR90	lung:	n/a	chr14:105941865-105941875 chr14:105941466-105941476 chr14:105941170-105941180 chr14:105940888-105940897 chr14:105940884-105940893 chr14:105942098-105942108 chr14:105942943-105942952 chr14:105940647-105940656
2	POLR2A	chr14:105943676-105944068	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:105939821-105943681	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:105940741-105944076	HUVEC	blood vessel:	n/a	n/a
5	MXI1	chr14:105938422-105943754	SK-N-SH	brain:	n/a	chr14:105940882-105940897 chr14:105940645-105940660 chr14:105940647-105940662 chr14:105939313-105939322
6	POLR2A	chr14:105941628-105943834	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:105942740-105943905	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr14:105943505-105943986	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr14:105941038-105943966	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr14:105940540-105944037	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr14:105941113-105944875	SK-N-MC	brain:	n/a	n/a
12	ZBTB7A	chr14:105938717-105943915	ECC-1	luminal epithelium:	n/a	chr14:105940404-105940411
13	POLR2A	chr14:105939663-105944227	ECC-1	luminal epithelium:	n/a	n/a
14	ZBTB7A	chr14:105938553-105943953	ECC-1	luminal epithelium:	n/a	chr14:105940404-105940411

No.	Distal block	Cell Line	Cell type
1	chr14:105936257..105939120-chr14:105942234..105944097,2	K562	blood:
2	chr14:105942434..105944086-chr14:105990952..105992969,2	MCF-7	breast:
3	chr14:105940935..105943956-chr14:105992893..105994957,3	MCF-7	breast:

Variant related genes	Relation type
CRIP2	TF binding region
ENSG00000257270	Chromatin interaction
ENSG00000184986	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10138891	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs10147154	1.00[CHD][hapmap]
rs11160845	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs11621365	1.00[CHD][hapmap]
rs11845995	1.00[CHD][hapmap]
rs12323571	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs13707	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4074000	0.94[ASW][hapmap];0.83[YRI][hapmap]
rs4074001	0.88[ASW][hapmap];1.00[CHD][hapmap];0.86[YRI][hapmap]
rs4983407	1.00[CHD][hapmap]
rs4983412	0.86[AMR][1000 genomes]
rs4983414	0.82[ASW][hapmap];1.00[CHD][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983417	1.00[ASN][1000 genomes]
rs4983419	0.86[AMR][1000 genomes]
rs4983422	0.93[AMR][1000 genomes]
rs4983423	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983614	1.00[CHD][hapmap]
rs4983624	0.83[YRI][hapmap]
rs6576099	1.00[CHD][hapmap]
rs6576106	0.80[YRI][hapmap]
rs7140395	0.93[AMR][1000 genomes]
rs7153174	1.00[CHD][hapmap]
rs7158977	0.93[AMR][1000 genomes]
rs7161158	1.00[CHD][hapmap]
rs73362069	0.93[AMR][1000 genomes]
rs73362079	1.00[ASN][1000 genomes]
rs7492892	0.86[AMR][1000 genomes]
rs7493450	0.86[AMR][1000 genomes]
rs7493964	0.94[ASW][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.93[YRI][hapmap]
rs8005552	1.00[CHD][hapmap]
rs8012089	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9743822	1.00[CHD][hapmap]

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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105940000-105944000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:105940200-105944200	Active TSS	Right Atrium	heart
3	chr14:105940400-105943800	Active TSS	Fetal Kidney	kidney
4	chr14:105941200-105944000	Flanking Active TSS	Pancreas	Pancrea
5	chr14:105941400-105944000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:105941400-105944000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr14:105941400-105944000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr14:105941600-105944000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr14:105941600-105944000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:105941600-105944000	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr14:105941600-105944000	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr14:105941600-105944000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr14:105941600-105944000	Flanking Active TSS	Esophagus	oesophagus
14	chr14:105941600-105944000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr14:105941600-105944000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr14:105941600-105944000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr14:105941600-105944000	Flanking Active TSS	HMEC	breast
18	chr14:105941800-105943800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:105941800-105943800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:105941800-105943800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:105941800-105943800	Active TSS	Fetal Heart	heart
22	chr14:105941800-105943800	Flanking Active TSS	NH-A	brain
23	chr14:105941800-105944000	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr14:105941800-105944000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr14:105941800-105944000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:105941800-105944000	Flanking Active TSS	Fetal Brain Female	brain
27	chr14:105941800-105944000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:105941800-105944800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr14:105942000-105944000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr14:105942000-105944000	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr14:105942000-105944000	Enhancers	Gastric	stomach
32	chr14:105942000-105944000	Flanking Active TSS	HUVEC	blood vessel
33	chr14:105942000-105944200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:105942000-105944600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:105942000-105947000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr14:105942000-105947000	Weak transcription	K562	blood
37	chr14:105942200-105944000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:105942200-105944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:105942200-105945200	Enhancers	Primary B cells from cord blood	blood
40	chr14:105942400-105943800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr14:105942400-105943800	Enhancers	A549	lung
42	chr14:105942400-105944400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:105942600-105943800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:105942600-105943800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr14:105942600-105943800	Flanking Active TSS	HepG2	liver
46	chr14:105942600-105944000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:105942600-105944000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr14:105942600-105944000	Flanking Active TSS	Lung	lung
49	chr14:105942600-105944000	Flanking Active TSS	HSMM	muscle
50	chr14:105942600-105944000	Flanking Active TSS	HSMMtube	muscle

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