Variant report

Variant	rs8006890
Chromosome Location	chr14:69123935-69123936
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69104267..69107230-chr14:69123816..69125821,2	MCF-7	breast:
2	chr14:68937048..68939834-chr14:69120983..69124190,3	MCF-7	breast:
3	chr14:69120949..69124420-chr14:69255481..69258792,4	MCF-7	breast:
4	chr14:69117709..69119470-chr14:69122795..69124704,2	K562	blood:
5	chr14:69122320..69125331-chr14:69259876..69262362,3	MCF-7	breast:
6	chr14:69112688..69114597-chr14:69122344..69125074,2	K562	blood:
7	chr14:69030473..69032904-chr14:69122357..69124258,2	MCF-7	breast:
8	chr14:68740932..68744536-chr14:69121884..69124192,3	MCF-7	breast:
9	chr14:69116897..69119206-chr14:69123496..69125960,2	MCF-7	breast:
10	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:
11	chr14:69122387..69124084-chr14:69250804..69252456,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10135342	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873215	0.82[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11158754	0.84[EUR][1000 genomes]
rs11158755	0.84[EUR][1000 genomes]
rs11158756	0.84[EUR][1000 genomes]
rs11629204	0.84[EUR][1000 genomes]
rs1474960	0.88[CEU][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17835218	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17835244	0.88[CEU][hapmap];0.94[AMR][1000 genomes]
rs2877496	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899250	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4902626	0.87[EUR][1000 genomes]
rs55767067	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61987113	0.84[EUR][1000 genomes]
rs61987118	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798800	chr14:69114353-69131030	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8006890	SIPA1L1	cis	parietal	SCAN
rs8006890	SLC39A9	cis	cerebellum	SCAN
rs8006890	DCAF5	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69115400-69130200	Enhancers	Fetal Stomach	stomach
2	chr14:69117000-69124000	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:69119000-69125800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:69119600-69125400	Weak transcription	NHDF-Ad	bronchial
5	chr14:69120800-69126800	Enhancers	Fetal Lung	lung
6	chr14:69120800-69127000	Enhancers	Fetal Thymus	thymus
7	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:69121000-69125800	Enhancers	Fetal Muscle Trunk	muscle
9	chr14:69121200-69129400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:69121600-69124000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:69122000-69125000	Weak transcription	Gastric	stomach
12	chr14:69122000-69125800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:69122000-69127400	Weak transcription	GM12878-XiMat	blood
14	chr14:69122000-69136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:69122200-69131200	Weak transcription	Small Intestine	intestine
16	chr14:69122400-69125400	Weak transcription	NHLF	lung
17	chr14:69122600-69125400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:69122600-69125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:69122600-69125600	Weak transcription	Colonic Mucosa	Colon
20	chr14:69122600-69129600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:69122800-69125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:69122800-69125200	Enhancers	Stomach Smooth Muscle	stomach
23	chr14:69122800-69125200	Weak transcription	HSMMtube	muscle
24	chr14:69122800-69125600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:69122800-69125600	Weak transcription	Left Ventricle	heart
26	chr14:69122800-69125600	Weak transcription	Stomach Mucosa	stomach
27	chr14:69122800-69125600	Weak transcription	HSMM	muscle
28	chr14:69122800-69128400	Weak transcription	Right Ventricle	heart
29	chr14:69122800-69133600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:69122800-69133800	Weak transcription	Primary B cells from cord blood	blood
31	chr14:69123000-69124400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:69123000-69124600	Weak transcription	Lung	lung
33	chr14:69123000-69124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:69123000-69124800	Weak transcription	Brain Germinal Matrix	brain
35	chr14:69123000-69125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:69123000-69125000	Weak transcription	Brain Angular Gyrus	brain
37	chr14:69123000-69125000	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:69123000-69125000	Weak transcription	Esophagus	oesophagus
39	chr14:69123000-69125000	Weak transcription	Pancreas	Pancrea
40	chr14:69123000-69125200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:69123000-69125200	Weak transcription	Brain Anterior Caudate	brain
42	chr14:69123000-69125200	Weak transcription	Fetal Heart	heart
43	chr14:69123000-69125200	Weak transcription	Fetal Kidney	kidney
44	chr14:69123000-69125200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:69123000-69125200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:69123000-69125400	Weak transcription	NH-A	brain
47	chr14:69123000-69125600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:69123000-69125600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:69123000-69125800	Weak transcription	Fetal Brain Female	brain
50	chr14:69123000-69129600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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