Variant report

Variant	rs12434580
Chromosome Location	chr14:68746042-68746043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68744804..68746864-chr14:68934365..68937037,2	MCF-7	breast:
2	chr14:68697764..68699372-chr14:68745653..68748495,2	MCF-7	breast:
3	chr14:68742486..68746272-chr14:68747119..68750722,4	MCF-7	breast:
4	chr14:68744987..68750260-chr14:69250111..69256950,7	MCF-7	breast:
5	chr14:68745338..68754336-chr14:69258355..69264353,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11844086	1.00[ASN][1000 genomes]
rs11848477	0.94[ASN][1000 genomes]
rs12432392	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12433646	1.00[ASN][1000 genomes]
rs12435186	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12435229	1.00[ASN][1000 genomes]
rs12435617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12436418	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17105291	0.94[ASN][1000 genomes]
rs2104046	0.85[ASN][1000 genomes]
rs2331665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34186721	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34632606	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3784098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784100	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3784103	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3784105	0.89[AMR][1000 genomes]
rs4633645	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7151372	1.00[ASN][1000 genomes]
rs7151587	1.00[ASN][1000 genomes]
rs911256	0.82[ASN][1000 genomes]
rs9944146	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68729200-68749400	Weak transcription	Lung	lung
2	chr14:68731800-68749000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:68739000-68750000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:68739200-68748200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:68740000-68750200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:68740000-68751600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:68740200-68746600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:68742600-68746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:68742600-68749000	Weak transcription	Thymus	Thymus
10	chr14:68742600-68749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:68742600-68751800	Weak transcription	Stomach Mucosa	stomach
12	chr14:68742800-68747000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:68742800-68747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:68742800-68749000	Weak transcription	Small Intestine	intestine
15	chr14:68743000-68746600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:68743000-68747000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:68743000-68747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:68743000-68748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:68743000-68749200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:68743000-68749400	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:68743200-68747000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:68743200-68749200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:68743600-68746600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr14:68743600-68746600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:68743800-68746800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:68744000-68748400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:68744800-68746800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:68744800-68751400	Enhancers	HepG2	liver
29	chr14:68745000-68746200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:68745000-68746200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:68745000-68746200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:68745000-68746200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:68745000-68746200	Enhancers	Fetal Kidney	kidney
34	chr14:68745000-68746200	Enhancers	Hela-S3	cervix
35	chr14:68745000-68746200	Enhancers	K562	blood
36	chr14:68745000-68746800	Enhancers	Liver	Liver
37	chr14:68745000-68747400	Flanking Active TSS	GM12878-XiMat	blood
38	chr14:68745200-68746200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:68745200-68746200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:68745200-68746200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:68745200-68746200	Enhancers	Brain Hippocampus Middle	brain
42	chr14:68745200-68746200	Enhancers	Fetal Lung	lung
43	chr14:68745200-68746200	Enhancers	HMEC	breast
44	chr14:68745200-68746200	Enhancers	NHDF-Ad	bronchial
45	chr14:68745200-68746600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:68745200-68746800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:68745200-68746800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:68745200-68746800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:68745200-68747400	Enhancers	Psoas Muscle	Psoas
50	chr14:68745200-68747600	Enhancers	Skeletal Muscle Female	skeletal muscle

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