Variant report

Variant	rs17200568
Chromosome Location	chr14:25278656-25278657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1052484	0.90[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11550670	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1241640	0.85[MEX][hapmap]
rs1241641	0.85[MEX][hapmap]
rs12887071	1.00[CHD][hapmap]
rs12894282	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17185439	1.00[ASW][hapmap]
rs17200624	0.90[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35131265	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35990769	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71405871	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72681097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs854325	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1035284	chr14:25267840-25285191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv542003	chr14:25267840-25285191	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv525203	chr14:25270335-25282967	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv456169	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv564071	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17200568	EDDM3B	cis	cerebellum	SCAN
rs17200568	CIDEB	cis	lymphoblastoid	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25272400-25283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:25274000-25283000	Weak transcription	Gastric	stomach
3	chr14:25275000-25279400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:25275200-25285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:25275400-25285000	Weak transcription	Lung	lung
6	chr14:25275600-25279400	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:25275600-25279600	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:25275800-25279200	Weak transcription	Fetal Kidney	kidney
9	chr14:25276000-25279400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:25276000-25279400	Weak transcription	Small Intestine	intestine
11	chr14:25276000-25280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:25276000-25281400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:25276200-25279600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:25276200-25279600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:25276200-25282000	Weak transcription	Fetal Brain Female	brain
16	chr14:25276200-25285400	Weak transcription	Adipose Nuclei	Adipose
17	chr14:25276200-25286600	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:25276600-25279400	Weak transcription	Fetal Heart	heart
19	chr14:25276600-25284800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:25276800-25284800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:25277200-25282400	Enhancers	Fetal Lung	lung
22	chr14:25277800-25279400	Weak transcription	Fetal Brain Male	brain
23	chr14:25277800-25280800	Enhancers	HepG2	liver
24	chr14:25277800-25286600	Weak transcription	Placenta	Placenta
25	chr14:25278000-25286400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:25278200-25278800	Enhancers	Stomach Mucosa	stomach
27	chr14:25278200-25278800	Enhancers	HSMM	muscle
28	chr14:25278200-25278800	Enhancers	HSMMtube	muscle
29	chr14:25278400-25279200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr14:25278400-25279400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:25278400-25279400	Weak transcription	Left Ventricle	heart
32	chr14:25278400-25279400	Weak transcription	Pancreas	Pancrea
33	chr14:25278400-25283200	Weak transcription	Right Ventricle	heart
34	chr14:25278600-25280000	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:25278600-25283200	Enhancers	Liver	Liver
36	chr14:25278600-25283800	Enhancers	Fetal Intestine Small	intestine
37	chr14:25278600-25287600	Enhancers	Fetal Intestine Large	intestine

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