Variant report

Variant	rs8005089
Chromosome Location	chr14:71673863-71673864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71673720..71675748-chr14:71787192..71788845,2	MCF-7	breast:
2	chr14:71666330..71668532-chr14:71673021..71675504,2	MCF-7	breast:
3	chr14:71673509..71676275-chr14:71679068..71681548,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258517	Chromatin interaction
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10130213	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10144392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11158898	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11844320	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11850267	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11851589	0.80[AMR][1000 genomes]
rs17109116	0.80[AMR][1000 genomes]
rs17177822	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17767266	0.89[CEU][hapmap]
rs17767296	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs1990035	0.83[CEU][hapmap]
rs4902887	1.00[CHB][hapmap]
rs4902916	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902917	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902918	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4902922	0.83[AMR][1000 genomes]
rs55737377	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60536344	0.80[AMR][1000 genomes]
rs61174376	0.80[AMR][1000 genomes]
rs61989206	0.83[AMR][1000 genomes]
rs61989207	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61989208	0.83[AMR][1000 genomes]
rs6574006	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6574007	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs7146169	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs7150921	0.85[AMR][1000 genomes]
rs7153194	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72726657	0.83[EUR][1000 genomes]
rs72726677	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8005615	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8005925	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8010203	0.89[CEU][hapmap];0.80[AMR][1000 genomes]
rs8017895	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1036929	chr14:71469148-71683412	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71661200-71679400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:71669600-71677000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:71670200-71677200	Weak transcription	Spleen	Spleen
4	chr14:71673000-71674200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:71673000-71674200	Enhancers	Osteobl	bone
6	chr14:71673200-71674200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:71673200-71674200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:71673200-71674200	Enhancers	NHDF-Ad	bronchial
9	chr14:71673200-71674400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:71673200-71674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:71673400-71674000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:71673400-71674000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:71673400-71674000	Enhancers	Brain Substantia Nigra	brain
14	chr14:71673400-71674000	Enhancers	Colon Smooth Muscle	Colon
15	chr14:71673400-71674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:71673400-71674000	Enhancers	HUVEC	blood vessel
17	chr14:71673400-71674000	Enhancers	NHEK	skin
18	chr14:71673400-71674200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:71673400-71674200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:71673400-71674200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:71673400-71674200	Enhancers	Brain Anterior Caudate	brain
22	chr14:71673400-71674200	Enhancers	Stomach Mucosa	stomach
23	chr14:71673400-71674200	Enhancers	HMEC	breast
24	chr14:71673400-71674200	Enhancers	HSMMtube	muscle
25	chr14:71673400-71674200	Enhancers	NH-A	brain
26	chr14:71673400-71674400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:71673400-71674600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:71673600-71674000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:71673600-71674000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:71673600-71674200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:71673600-71674200	Enhancers	Fetal Muscle Leg	muscle
32	chr14:71673800-71674000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:71673800-71674200	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:71673800-71674200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:71673800-71674200	Enhancers	Stomach Smooth Muscle	stomach
36	chr14:71673800-71674600	Enhancers	Brain Angular Gyrus	brain
37	chr14:71673800-71674800	Enhancers	Brain Cingulate Gyrus	brain

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