Variant report

Variant	rs11051801
Chromosome Location	chr12:32262260-32262261
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	JUN	chr12:32258796-32262329	K562	blood:	n/a	n/a
2	MXI1	chr12:32258712-32262487	SK-N-SH	brain:	n/a	chr12:32259312-32259321
3	REST	chr12:32259081-32262319	H1-neurons	neurons:	n/a	chr12:32259715-32259725

No.	Distal block	Cell Line	Cell type
1	chr12:32260676..32263344-chr12:32452464..32455287,2	MCF-7	breast:
2	chr12:32260677..32263592-chr12:32286494..32288195,2	MCF-7	breast:
3	chr12:32260649..32262291-chr12:32271936..32273601,2	MCF-7	breast:
4	chr12:32261687..32264441-chr12:32470359..32472104,2	MCF-7	breast:
5	chr12:32260830..32263543-chr12:32269172..32271594,2	MCF-7	breast:
6	chr12:32246977..32248862-chr12:32261358..32263191,2	K562	blood:
7	chr12:32258502..32261631-chr12:32261998..32266748,8	K562	blood:

Variant related genes	Relation type
ENSG00000257530	TF binding region
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10844125	0.84[ASN][1000 genomes]
rs11051793	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051794	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051795	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11051796	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051797	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12230302	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12821691	0.80[EUR][1000 genomes]
rs12825111	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12828764	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35763171	0.84[ASN][1000 genomes]
rs58323840	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67981247	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71457606	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7959397	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32258800-32262400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:32258800-32263000	Active TSS	Fetal Brain Female	brain
3	chr12:32259000-32262400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32259000-32262400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:32259000-32263200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:32259000-32263200	Active TSS	Ovary	ovary
7	chr12:32259200-32262400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:32259200-32263400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:32259400-32262400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:32259400-32262400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:32259400-32263000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr12:32259400-32263000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:32259400-32263000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:32260200-32262400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:32260200-32262400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:32260400-32262400	Flanking Active TSS	Dnd41	blood
17	chr12:32260400-32262400	Flanking Active TSS	HUVEC	blood vessel
18	chr12:32260400-32267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:32260600-32262400	Active TSS	Right Atrium	heart
20	chr12:32260600-32263000	Weak transcription	Gastric	stomach
21	chr12:32260800-32262400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr12:32261000-32268600	Weak transcription	Spleen	Spleen
23	chr12:32261200-32262400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:32261200-32263200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:32261200-32263200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:32261200-32263400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:32261200-32264600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:32261200-32268400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:32261200-32268400	Weak transcription	Left Ventricle	heart
30	chr12:32261200-32271200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:32261400-32262400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:32261400-32264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:32261400-32268600	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
37	chr12:32261600-32262400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:32261600-32262400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:32261600-32262400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:32261600-32262400	Enhancers	Primary T cells from cord blood	blood
41	chr12:32261600-32262400	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:32261600-32262400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:32261800-32262400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:32261800-32262400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr12:32261800-32262400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr12:32261800-32262400	Flanking Active TSS	GM12878-XiMat	blood
47	chr12:32261800-32262400	Flanking Active TSS	Hela-S3	cervix
48	chr12:32261800-32262400	Flanking Active TSS	NH-A	brain
49	chr12:32261800-32262400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr12:32261800-32262400	Flanking Active TSS	NHEK	skin

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