Variant report

Variant	rs12437268
Chromosome Location	chr14:81787255-81787256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:61841663..61842213-chr14:81786743..81787440,2	MCF-7	breast:
2	chr14:81787114..81788758-chr14:81816249..81818905,2	K562	blood:
3	chr11:61841676..61843276-chr14:81785709..81787593,4	MCF-7	breast:
4	chr14:81684734..81687566-chr14:81785566..81790169,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10137342	0.82[JPT][hapmap]
rs10145323	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17094177	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs17111611	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs17111627	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs17111651	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17111691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033255	0.82[JPT][hapmap]
rs3815952	0.82[JPT][hapmap];1.00[YRI][hapmap]
rs728458	1.00[YRI][hapmap]

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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81773600-81790600	Weak transcription	K562	blood
2	chr14:81778400-81810800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:81778600-81789200	Weak transcription	Esophagus	oesophagus
4	chr14:81779600-81788200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:81780600-81790400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:81781000-81798400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:81781200-81792400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:81782200-81790200	Weak transcription	Placenta	Placenta
9	chr14:81782200-81790600	Weak transcription	Psoas Muscle	Psoas
10	chr14:81782400-81788400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:81782400-81789000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:81782600-81790200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:81782800-81788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:81783000-81787400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:81783000-81788000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:81783000-81788000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:81783000-81788800	Weak transcription	Fetal Kidney	kidney
18	chr14:81783000-81789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:81783000-81789000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:81783600-81788000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:81783600-81788600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:81784000-81787400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:81784200-81789200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:81785200-81787600	Enhancers	Fetal Intestine Small	intestine
25	chr14:81786400-81788600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:81786600-81788000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:81786600-81788600	Weak transcription	Stomach Mucosa	stomach
28	chr14:81786600-81789000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:81786600-81789400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:81786800-81787600	Enhancers	HMEC	breast
31	chr14:81786800-81788600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:81787000-81787400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:81787000-81787400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:81787000-81787400	Enhancers	Spleen	Spleen
35	chr14:81787000-81787600	Flanking Active TSS	NHEK	skin
36	chr14:81787000-81788200	Weak transcription	Fetal Intestine Large	intestine
37	chr14:81787000-81789200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:81787200-81787400	Enhancers	Hela-S3	cervix
39	chr14:81787200-81787600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:81787200-81787800	Enhancers	HepG2	liver
41	chr14:81787200-81788000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:81787200-81788200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:81787200-81788400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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