Variant report

Variant	rs56400996
Chromosome Location	chr12:11129364-11129365
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10732561	0.85[ASN][1000 genomes]
rs10734843	0.85[ASN][1000 genomes]
rs10772395	0.95[ASN][1000 genomes]
rs10772398	0.85[ASN][1000 genomes]
rs1376249	0.85[ASN][1000 genomes]
rs1463237	0.85[ASN][1000 genomes]
rs1817043	0.85[ASN][1000 genomes]
rs1839569	0.85[ASN][1000 genomes]
rs2255418	0.85[ASN][1000 genomes]
rs2257110	0.85[ASN][1000 genomes]
rs2597984	0.85[ASN][1000 genomes]
rs2597988	0.85[ASN][1000 genomes]
rs2597990	0.85[ASN][1000 genomes]
rs2599415	0.85[ASN][1000 genomes]
rs2708323	0.85[ASN][1000 genomes]
rs2900577	0.85[ASN][1000 genomes]
rs4388985	0.85[ASN][1000 genomes]
rs4763598	0.81[ASN][1000 genomes]
rs6488331	0.81[ASN][1000 genomes]
rs6488333	0.95[ASN][1000 genomes]
rs7306087	0.85[ASN][1000 genomes]
rs7315843	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1804419	chr12:11103505-11149830	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898778	chr12:11108281-11165394	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3527635	chr12:11118027-11138625	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3527636	chr12:11118027-11138625	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11095200-11148800	Weak transcription	HepG2	liver
2	chr12:11100800-11134200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:11102000-11135600	Weak transcription	Aorta	Aorta
4	chr12:11111800-11142800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:11114000-11134000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:11114000-11149200	Weak transcription	GM12878-XiMat	blood
7	chr12:11114200-11131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:11114200-11134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:11114600-11129600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:11114600-11135400	Weak transcription	Dnd41	blood
12	chr12:11114600-11142800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:11114600-11146400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:11114600-11146800	Weak transcription	Ovary	ovary
15	chr12:11121800-11142800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:11122000-11132000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:11122000-11136800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:11122000-11142600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:11122000-11146200	Weak transcription	Left Ventricle	heart
20	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
22	chr12:11126000-11130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:11126400-11142800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:11126400-11143000	Weak transcription	HSMM	muscle
25	chr12:11127000-11130200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:11128200-11131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:11128200-11142800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:11128600-11131600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:11128800-11131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:11128800-11131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:11129000-11129400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum

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