Variant report

Variant	rs12516437
Chromosome Location	chr5:167696063-167696064
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167695446..167697955-chr5:167717142..167719890,3	MCF-7	breast:
2	chr5:167692911..167698949-chr5:167714034..167720280,9	MCF-7	breast:
3	chr5:167695818..167698583-chr5:167740233..167742676,2	MCF-7	breast:
4	chr5:167694757..167697092-chr5:167760205..167762595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11743769	0.81[CHB][hapmap]
rs7706714	0.92[CHB][hapmap];0.96[CHD][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv5117	chr5:167666701-167711857	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv462512	chr5:167672105-167702041	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv600257	chr5:167672105-167702041	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167688400-167696200	Weak transcription	Right Atrium	heart
2	chr5:167689800-167696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:167693600-167696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167695200-167696200	Weak transcription	HSMMtube	muscle
5	chr5:167695400-167697400	Enhancers	Fetal Brain Male	brain
6	chr5:167695600-167696200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:167695600-167696200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr5:167695600-167696400	Enhancers	Esophagus	oesophagus
9	chr5:167695600-167696400	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr5:167695600-167696800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167695800-167696200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr5:167695800-167696200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr5:167695800-167696200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr5:167695800-167696200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr5:167695800-167696200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr5:167695800-167696200	Enhancers	Stomach Mucosa	stomach
17	chr5:167695800-167696400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr5:167695800-167696600	Active TSS	Brain Cingulate Gyrus	brain
19	chr5:167695800-167696800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:167695800-167696800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:167695800-167696800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:167695800-167696800	Flanking Active TSS	Fetal Lung	lung
23	chr5:167695800-167696800	Enhancers	Gastric	stomach
24	chr5:167695800-167697600	Flanking Active TSS	Hela-S3	cervix
25	chr5:167696000-167696200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:167696000-167696200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:167696000-167696200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr5:167696000-167696200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:167696000-167696200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr5:167696000-167696200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr5:167696000-167696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:167696000-167696200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:167696000-167696200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:167696000-167696200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:167696000-167696200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:167696000-167696200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:167696000-167696200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr5:167696000-167696200	Enhancers	Colonic Mucosa	Colon
39	chr5:167696000-167696200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr5:167696000-167696200	Flanking Active TSS	Fetal Brain Female	brain
41	chr5:167696000-167696200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr5:167696000-167696200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr5:167696000-167696200	Enhancers	Placenta	Placenta
44	chr5:167696000-167696200	Enhancers	Left Ventricle	heart
45	chr5:167696000-167696200	Enhancers	Pancreas	Pancrea
46	chr5:167696000-167696200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr5:167696000-167696200	Enhancers	Right Ventricle	heart
48	chr5:167696000-167696200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:167696000-167696200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr5:167696000-167696200	Bivalent Enhancer	Dnd41	blood

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