Variant report

Variant	rs3118904
Chromosome Location	chr13:51100097-51100098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51094293..51096680-chr13:51098337..51100643,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU7-2	chr13:51100088-51100143	XLOC_010614

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17074540	0.87[LWK][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3118904	CKAP2	cis	parietal	SCAN
rs3118904	ATP7B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51087800-51102000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:51088200-51100800	Weak transcription	Primary B cells from cord blood	blood
3	chr13:51093400-51100600	Weak transcription	Brain Germinal Matrix	brain
4	chr13:51093400-51101400	Weak transcription	Left Ventricle	heart
5	chr13:51093400-51101600	Weak transcription	Right Atrium	heart
6	chr13:51093400-51102000	Weak transcription	HSMMtube	muscle
7	chr13:51093600-51101600	Weak transcription	HSMM	muscle
8	chr13:51093800-51100800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:51093800-51101600	Weak transcription	Brain Angular Gyrus	brain
10	chr13:51094800-51101000	Weak transcription	Pancreas	Pancrea
11	chr13:51095000-51101600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:51095600-51100600	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:51095800-51102000	Weak transcription	Right Ventricle	heart
14	chr13:51096000-51100800	Weak transcription	Brain Substantia Nigra	brain
15	chr13:51096000-51100800	Weak transcription	NHLF	lung
16	chr13:51096000-51101800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:51096000-51103200	Weak transcription	Ovary	ovary
18	chr13:51096200-51101400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:51096200-51102200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:51096400-51100200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:51096400-51100600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:51096400-51101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:51096600-51100600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr13:51096600-51100800	Weak transcription	Brain Anterior Caudate	brain
26	chr13:51096600-51100800	Weak transcription	Placenta	Placenta
27	chr13:51096600-51100800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:51096600-51101000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:51096600-51103400	Weak transcription	Small Intestine	intestine
30	chr13:51096800-51100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr13:51096800-51100600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr13:51097200-51100800	Weak transcription	Psoas Muscle	Psoas
33	chr13:51097200-51102800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:51097600-51100800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:51097600-51100800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr13:51097600-51103400	Weak transcription	Fetal Intestine Small	intestine
37	chr13:51097800-51100400	Weak transcription	Fetal Stomach	stomach
38	chr13:51097800-51100600	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:51097800-51101400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr13:51097800-51101600	Weak transcription	Fetal Kidney	kidney
41	chr13:51098000-51100200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:51098000-51100400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:51098000-51101000	Weak transcription	Adipose Nuclei	Adipose
44	chr13:51098200-51101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:51098400-51100600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:51098400-51100600	Weak transcription	Osteobl	bone
47	chr13:51098600-51100400	Weak transcription	Fetal Lung	lung
48	chr13:51098600-51100600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:51098600-51102000	Weak transcription	NHDF-Ad	bronchial
50	chr13:51098600-51103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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