Variant report

Variant	rs17092070
Chromosome Location	chr14:72123008-72123009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11850220	0.89[TSI][hapmap];0.95[YRI][hapmap]
rs12147154	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17100926	0.89[TSI][hapmap]
rs60065332	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72729956	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72729973	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[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
rs17092070	PCNX	cis	parietal	SCAN
rs17092070	DNAL1	cis	parietal	SCAN

Chromatin state (count:94 , 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	chr14:72083600-72128200	Weak transcription	Spleen	Spleen
4	chr14:72088200-72159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr14:72090000-72124200	Weak transcription	Hela-S3	cervix
6	chr14:72091000-72127400	Weak transcription	Pancreas	Pancrea
7	chr14:72106000-72125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:72109200-72137800	Weak transcription	Fetal Stomach	stomach
9	chr14:72109800-72150800	Weak transcription	Colonic Mucosa	Colon
10	chr14:72111200-72139000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:72112000-72128000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:72113800-72141600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:72114400-72126000	Weak transcription	Stomach Mucosa	stomach
14	chr14:72114400-72138000	Weak transcription	Gastric	stomach
15	chr14:72115000-72133800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:72115600-72125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:72117400-72123200	Weak transcription	Aorta	Aorta
18	chr14:72117400-72125000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:72117400-72125200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:72117400-72128000	Weak transcription	Lung	lung
21	chr14:72117600-72128000	Weak transcription	Fetal Thymus	thymus
22	chr14:72117600-72131800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:72118400-72128000	Weak transcription	Thymus	Thymus
24	chr14:72118600-72125200	Weak transcription	HMEC	breast
25	chr14:72118600-72125200	Weak transcription	NHLF	lung
26	chr14:72118600-72128000	Weak transcription	Fetal Kidney	kidney
27	chr14:72118600-72128000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:72118600-72133600	Weak transcription	Fetal Lung	lung
29	chr14:72118600-72142000	Weak transcription	Fetal Brain Male	brain
30	chr14:72118600-72191400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:72118800-72124400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:72118800-72124800	Weak transcription	HSMMtube	muscle
33	chr14:72118800-72125000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:72118800-72125000	Weak transcription	NH-A	brain
35	chr14:72118800-72125200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:72118800-72125200	Weak transcription	Brain Angular Gyrus	brain
37	chr14:72119000-72125000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:72119000-72125000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:72119000-72125000	Weak transcription	NHDF-Ad	bronchial
40	chr14:72119000-72125400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:72119000-72127800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:72119000-72128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:72119000-72128000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:72119000-72135800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:72119000-72141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:72119200-72125000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:72119200-72125000	Weak transcription	HUVEC	blood vessel
48	chr14:72119200-72125200	Weak transcription	Primary T cells from cord blood	blood
49	chr14:72119200-72125200	Weak transcription	NHEK	skin
50	chr14:72119200-72127400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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