Variant report

Variant	rs12432583
Chromosome Location	chr14:68844189-68844190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68839948..68842055-chr14:68844186..68845983,2	MCF-7	breast:
2	chr14:68842793..68845023-chr14:69283063..69285593,2	K562	blood:
3	chr14:68833551..68835141-chr14:68843707..68845855,2	K562	blood:
4	chr14:68841263..68843280-chr14:68843376..68844919,2	MCF-7	breast:
5	chr14:68843051..68845983-chr14:68924155..68927430,4	MCF-7	breast:
6	chr14:68843357..68844886-chr14:68924790..68926556,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11158733	0.86[AMR][1000 genomes]
rs11624613	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12435322	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12889666	0.81[CEU][hapmap]
rs12889770	0.81[CEU][hapmap]
rs12890360	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12894080	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2331694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784117	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[TSI][hapmap]
rs4902574	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4902576	0.81[CEU][hapmap]
rs4902577	0.81[CEU][hapmap]
rs927221	0.82[ASW][hapmap];0.90[CEU][hapmap];0.91[JPT][hapmap];0.81[ASN][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	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

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68831800-68844200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:68832000-68844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:68832000-68851600	Weak transcription	Lung	lung
4	chr14:68832200-68844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:68832200-68844200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:68833000-68845200	Enhancers	Primary B cells from peripheral blood	blood
7	chr14:68834400-68846400	Weak transcription	Fetal Heart	heart
8	chr14:68836400-68847000	Weak transcription	Aorta	Aorta
9	chr14:68839200-68844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:68839400-68844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:68839800-68844200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:68839800-68850600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:68840000-68845800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:68840400-68844200	Enhancers	Primary B cells from cord blood	blood
15	chr14:68840600-68847600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:68840600-68847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:68840800-68844600	Enhancers	Fetal Muscle Leg	muscle
18	chr14:68840800-68845200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:68840800-68847400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:68840800-68847400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:68840800-68847600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr14:68840800-68847600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:68841000-68844600	Enhancers	Fetal Thymus	thymus
24	chr14:68841000-68846000	Enhancers	Fetal Lung	lung
25	chr14:68841200-68845800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:68841400-68844600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr14:68841400-68845200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:68841400-68845200	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:68841400-68847200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:68841600-68844200	Enhancers	Psoas Muscle	Psoas
31	chr14:68841600-68844200	Weak transcription	A549	lung
32	chr14:68841600-68845400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:68842000-68844200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:68842000-68844600	Enhancers	Thymus	Thymus
35	chr14:68842000-68845200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:68842000-68845200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:68842000-68845800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr14:68842200-68845200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:68842400-68844200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:68842400-68845000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:68842400-68846400	Enhancers	Colon Smooth Muscle	Colon
42	chr14:68842400-68850400	Weak transcription	Pancreas	Pancrea
43	chr14:68842600-68845000	Enhancers	Primary hematopoietic stem cells	blood
44	chr14:68842600-68845200	Enhancers	Fetal Stomach	stomach
45	chr14:68842800-68844200	Enhancers	Adipose Nuclei	Adipose
46	chr14:68842800-68844400	Enhancers	HSMM	muscle
47	chr14:68842800-68844600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr14:68842800-68845200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:68842800-68845200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:68843000-68844400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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