Variant report

Variant	rs8017001
Chromosome Location	chr14:69042668-69042669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69037050..69041400-chr14:69041759..69045325,4	MCF-7	breast:
2	chr14:69042225..69044616-chr14:69056393..69058325,2	MCF-7	breast:
3	chr14:68408832..68411171-chr14:69041848..69043615,2	MCF-7	breast:
4	chr14:69040226..69045730-chr14:69257652..69262741,8	MCF-7	breast:
5	chr14:69042594..69046267-chr14:69258129..69261368,4	MCF-7	breast:
6	chr14:69041655..69043328-chr14:69251823..69254372,2	MCF-7	breast:
7	chr14:68932415..68937640-chr14:69040451..69046051,7	MCF-7	breast:
8	chr14:69033011..69036090-chr14:69041393..69045168,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12100794	1.00[ASN][1000 genomes]
rs17105852	1.00[ASN][1000 genomes]
rs2525506	1.00[ASN][1000 genomes]
rs4902602	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670604	1.00[ASN][1000 genomes]
rs55982127	1.00[ASN][1000 genomes]
rs56026252	1.00[ASN][1000 genomes]
rs56054401	1.00[ASN][1000 genomes]
rs56147515	1.00[ASN][1000 genomes]
rs56239917	1.00[ASN][1000 genomes]
rs61985775	1.00[ASN][1000 genomes]
rs61985777	1.00[ASN][1000 genomes]
rs761944	0.87[CEU][hapmap];0.80[TSI][hapmap]
rs8012659	1.00[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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8017001	SLC39A9	cis	cerebellum	SCAN
rs8017001	PIGH	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69042800	Weak transcription	Gastric	stomach
4	chr14:69037400-69042800	Weak transcription	Right Ventricle	heart
5	chr14:69037400-69042800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
7	chr14:69037800-69042800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69039200-69044400	Weak transcription	Liver	Liver
9	chr14:69039400-69042800	Weak transcription	Pancreas	Pancrea
10	chr14:69040400-69043800	Enhancers	Lung	lung
11	chr14:69040600-69045600	Enhancers	Adipose Nuclei	Adipose
12	chr14:69040800-69042800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:69041000-69047800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:69041000-69048200	Enhancers	Placenta	Placenta
15	chr14:69041200-69042800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:69041200-69043200	Enhancers	Fetal Muscle Leg	muscle
17	chr14:69041200-69045200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:69041200-69048200	Enhancers	HSMMtube	muscle
19	chr14:69041400-69043400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr14:69041400-69043800	Enhancers	Spleen	Spleen
21	chr14:69041400-69045400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:69041400-69045600	Enhancers	Osteobl	bone
23	chr14:69041400-69045800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr14:69041400-69046400	Enhancers	NHDF-Ad	bronchial
25	chr14:69041400-69047200	Enhancers	HSMM	muscle
26	chr14:69041400-69047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:69041400-69048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69041600-69042800	Enhancers	A549	lung
29	chr14:69041600-69043600	Enhancers	Psoas Muscle	Psoas
30	chr14:69041600-69043800	Enhancers	Hela-S3	cervix
31	chr14:69041600-69044000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:69041600-69044600	Enhancers	NH-A	brain
33	chr14:69041600-69044800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:69041600-69045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:69041600-69045800	Enhancers	HMEC	breast
36	chr14:69041600-69046000	Enhancers	HUVEC	blood vessel
37	chr14:69041600-69046400	Enhancers	NHLF	lung
38	chr14:69041800-69043000	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:69041800-69043000	Enhancers	Fetal Muscle Trunk	muscle
40	chr14:69041800-69043400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:69041800-69044400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:69041800-69044400	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:69041800-69044800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:69041800-69046000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:69041800-69046000	Enhancers	HepG2	liver
46	chr14:69042000-69043000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:69042000-69043400	Weak transcription	Right Atrium	heart
48	chr14:69042000-69043400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:69042000-69044800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:69042000-69045800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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