Variant report

Variant	rs17795604
Chromosome Location	chr14:25277816-25277817
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	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12432022	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1461642	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17200659	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17200666	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1957760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2199394	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2199395	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4983023	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4983024	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61976829	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61976831	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs725230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8019575	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs854314	1.00[CHB][hapmap]
rs965383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No data

Chromatin state (count:36 , 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	chr14:25273400-25278200	Enhancers	Fetal Intestine Large	intestine
3	chr14:25274000-25283000	Weak transcription	Gastric	stomach
4	chr14:25275000-25279400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:25275200-25285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:25275400-25278200	Weak transcription	HSMMtube	muscle
7	chr14:25275400-25278400	Enhancers	Right Ventricle	heart
8	chr14:25275400-25285000	Weak transcription	Lung	lung
9	chr14:25275600-25279400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:25275600-25279600	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:25275800-25279200	Weak transcription	Fetal Kidney	kidney
12	chr14:25276000-25278200	Weak transcription	Stomach Mucosa	stomach
13	chr14:25276000-25279400	Weak transcription	Brain Substantia Nigra	brain
14	chr14:25276000-25279400	Weak transcription	Small Intestine	intestine
15	chr14:25276000-25280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:25276000-25281400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:25276200-25278400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:25276200-25279600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:25276200-25279600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:25276200-25282000	Weak transcription	Fetal Brain Female	brain
21	chr14:25276200-25285400	Weak transcription	Adipose Nuclei	Adipose
22	chr14:25276200-25286600	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:25276600-25279400	Weak transcription	Fetal Heart	heart
24	chr14:25276600-25284800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:25276800-25284800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:25277200-25278600	Flanking Active TSS	Liver	Liver
27	chr14:25277200-25282400	Enhancers	Fetal Lung	lung
28	chr14:25277600-25278000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr14:25277600-25278400	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:25277600-25278400	Enhancers	Left Ventricle	heart
31	chr14:25277600-25278400	Enhancers	Pancreas	Pancrea
32	chr14:25277600-25278600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr14:25277800-25278000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:25277800-25279400	Weak transcription	Fetal Brain Male	brain
35	chr14:25277800-25280800	Enhancers	HepG2	liver
36	chr14:25277800-25286600	Weak transcription	Placenta	Placenta

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