Variant report

Variant	rs12895353
Chromosome Location	chr14:65177915-65177916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
2	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
3	chr14:65139588..65142521-chr14:65175762..65178559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10138034	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621159	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622754	0.82[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11625500	0.82[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628301	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883289	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12892852	0.82[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	0.82[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170683	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170685	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767074	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs229622	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs229648	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs229649	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340219	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.82[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	0.82[CEU][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65172800-65178000	Enhancers	Fetal Heart	heart
2	chr14:65173200-65178000	Enhancers	Spleen	Spleen
3	chr14:65173400-65178000	Enhancers	Adipose Nuclei	Adipose
4	chr14:65173800-65178000	Enhancers	Ovary	ovary
5	chr14:65173800-65179000	Enhancers	Liver	Liver
6	chr14:65174400-65178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr14:65175000-65178000	Enhancers	Left Ventricle	heart
8	chr14:65175200-65178600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
10	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:65175800-65178200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr14:65176000-65178000	Enhancers	Brain Angular Gyrus	brain
13	chr14:65176000-65178000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:65176000-65178000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:65176000-65178200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:65176000-65178200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:65176000-65180000	Weak transcription	Fetal Kidney	kidney
18	chr14:65176000-65186400	Weak transcription	Osteobl	bone
19	chr14:65176200-65178000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr14:65176200-65178000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:65176200-65178200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:65176200-65178400	Enhancers	Colon Smooth Muscle	Colon
23	chr14:65176200-65179000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:65176200-65180400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:65176200-65181400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
27	chr14:65176400-65178000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:65176400-65178000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:65176400-65178200	Strong transcription	Fetal Stomach	stomach
30	chr14:65176400-65178200	Genic enhancers	NHEK	skin
31	chr14:65176400-65178400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr14:65176400-65178400	Enhancers	Brain Anterior Caudate	brain
33	chr14:65176400-65178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:65176400-65178800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:65176400-65178800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:65176400-65179000	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:65176400-65179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:65176400-65181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:65176400-65181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:65176400-65181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:65176400-65182000	Weak transcription	Stomach Mucosa	stomach
42	chr14:65176600-65178000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:65176800-65178200	Enhancers	Brain Substantia Nigra	brain
44	chr14:65176800-65178200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr14:65176800-65178400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:65176800-65181400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:65176800-65181600	Weak transcription	Esophagus	oesophagus
48	chr14:65176800-65182000	Weak transcription	Gastric	stomach
49	chr14:65177000-65178200	Enhancers	Primary B cells from cord blood	blood
50	chr14:65177000-65178200	Enhancers	Brain Hippocampus Middle	brain

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