Variant report

Variant	rs3784060
Chromosome Location	chr14:72114138-72114139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72107137..72109592-chr14:72112007..72114588,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10147863	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11846689	0.96[ASN][1000 genomes]
rs17096112	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs35169957	0.86[ASN][1000 genomes]
rs4140798	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61989427	0.92[ASN][1000 genomes]
rs7149924	0.88[ASN][1000 genomes]
rs9972151	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3784060	SMOC1	cis	parietal	SCAN
rs3784060	L1CAM	trans	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72073200-72137800	Weak transcription	Esophagus	oesophagus
2	chr14:72082600-72125000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:72083600-72118000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:72083600-72128200	Weak transcription	Spleen	Spleen
5	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:72090000-72124200	Weak transcription	Hela-S3	cervix
7	chr14:72091000-72117000	Weak transcription	Liver	Liver
8	chr14:72091000-72127400	Weak transcription	Pancreas	Pancrea
9	chr14:72091200-72115200	Weak transcription	HepG2	liver
10	chr14:72091600-72116800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:72091600-72117000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:72091600-72117200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:72099400-72117200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:72099400-72118400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:72100000-72117000	Weak transcription	Dnd41	blood
16	chr14:72100000-72118400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:72101600-72117000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:72106000-72117000	Weak transcription	Primary T cells from cord blood	blood
19	chr14:72106000-72117000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:72106000-72125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:72109200-72116800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:72109200-72117000	Weak transcription	Aorta	Aorta
23	chr14:72109200-72117000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:72109200-72117000	Weak transcription	HSMM	muscle
25	chr14:72109200-72117800	Weak transcription	Fetal Lung	lung
26	chr14:72109200-72137800	Weak transcription	Fetal Stomach	stomach
27	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
28	chr14:72110000-72114200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:72110000-72114200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:72110000-72116800	Weak transcription	Brain Anterior Caudate	brain
31	chr14:72110000-72117000	Weak transcription	GM12878-XiMat	blood
32	chr14:72110000-72117200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:72110000-72118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:72110400-72116800	Weak transcription	Primary B cells from cord blood	blood
35	chr14:72110600-72117200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:72111200-72117000	Weak transcription	Adipose Nuclei	Adipose
37	chr14:72111200-72139000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:72111400-72117600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:72111400-72117800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:72112000-72117200	Weak transcription	Thymus	Thymus
41	chr14:72112000-72118000	Weak transcription	Small Intestine	intestine
42	chr14:72112000-72128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:72112400-72115400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:72112400-72117000	Weak transcription	Brain Angular Gyrus	brain
45	chr14:72112600-72114400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:72113200-72114400	Enhancers	Stomach Mucosa	stomach
47	chr14:72113200-72114400	Strong transcription	Osteobl	bone
48	chr14:72113200-72114600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:72113200-72114600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:72113200-72115200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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