Variant report

Variant	rs11168575
Chromosome Location	chr12:48839948-48839949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48839907-48840028	HUVEC	blood vessel:	n/a	n/a
2	NFIC	chr12:48839824-48840673	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OR8T1P	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11831402	1.00[EUR][1000 genomes]
rs11833476	1.00[EUR][1000 genomes]
rs11834568	1.00[EUR][1000 genomes]
rs11837276	1.00[EUR][1000 genomes]
rs11838348	1.00[EUR][1000 genomes]
rs12298768	1.00[YRI][hapmap]
rs7315543	1.00[EUR][1000 genomes]
rs74087200	1.00[EUR][1000 genomes]
rs7966005	1.00[EUR][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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv977157	chr12:48839854-48852791	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48833800-48840400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:48834200-48840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48834200-48840400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:48839200-48840200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:48839200-48840400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:48839200-48840400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:48839400-48840000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:48839400-48840200	Enhancers	Primary T cells from cord blood	blood
9	chr12:48839400-48840200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:48839400-48840400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:48839400-48840400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:48839400-48840400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:48839600-48840000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:48839600-48840000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:48839600-48840200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:48839600-48840200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:48839600-48840400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:48839600-48840400	Enhancers	Hela-S3	cervix
19	chr12:48839600-48841000	Enhancers	Fetal Heart	heart
20	chr12:48839600-48841200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48839800-48840200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:48839800-48840200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:48839800-48840400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:48839800-48840400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:48839800-48840400	Enhancers	Psoas Muscle	Psoas
26	chr12:48839800-48840400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:48839800-48840400	Enhancers	GM12878-XiMat	blood
28	chr12:48839800-48840400	Bivalent Enhancer	HUVEC	blood vessel
29	chr12:48839800-48840600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:48839800-48840600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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