Variant report

Variant	rs7965333
Chromosome Location	chr12:56225284-56225285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56223209-56225353	H1-neurons	neurons:	n/a	n/a
2	MAZ	chr12:56222508-56225685	IMR90	lung:	n/a	chr12:56225419-56225428
3	FOSL2	chr12:56225177-56225625	HepG2	liver:	n/a	chr12:56225420-56225427 chr12:56225421-56225432 chr12:56225420-56225428 chr12:56225420-56225429
4	POLR2A	chr12:56220836-56225418	SK-N-MC	brain:	n/a	n/a
5	CHD1	chr12:56222324-56225296	IMR90	lung:	n/a	n/a
6	REST	chr12:56223323-56225398	H1-neurons	neurons:	n/a	chr12:56223337-56223350 chr12:56224902-56224911 chr12:56223340-56223353
7	POLR2A	chr12:56223052-56225505	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr12:56225015-56225381	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr12:56222155-56225580	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr12:56222277-56225381	K562	blood:	n/a	n/a
11	POLR2A	chr12:56225053-56225443	HepG2	liver:	n/a	n/a
12	REST	chr12:56223111-56225481	H1-neurons	neurons:	n/a	chr12:56223337-56223350 chr12:56225397-56225406 chr12:56224902-56224911 chr12:56223340-56223353 chr12:56223316-56223329
13	TAF1	chr12:56223243-56225324	H1-neurons	neurons:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56222874..56225459-chr12:56331362..56334369,4	MCF-7	breast:
2	chr12:56222506..56227501-chr12:56233677..56237355,4	K562	blood:
3	chr12:56224688..56227501-chr12:56233908..56236745,4	K562	blood:
4	chr12:56222395..56225334-chr12:56325812..56327785,2	K562	blood:
5	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
6	chr12:56217816..56225905-chr12:56319649..56327312,13	K562	blood:
7	chr12:56223504..56226231-chr17:81007851..81010191,2	MCF-7	breast:
8	chr12:56223221..56225412-chr12:56473813..56476164,2	MCF-7	breast:
9	chr12:56217992..56226798-chr12:56311494..56331042,68	MCF-7	breast:
10	chr12:56219783..56227072-chr12:56318292..56323886,14	K562	blood:
11	chr12:56224367..56226323-chr12:56401356..56403743,2	MCF-7	breast:
12	chr12:56222623..56225394-chr12:56346640..56348578,2	K562	blood:
13	chr12:56222332..56225809-chr12:56227507..56233140,8	K562	blood:
14	chr11:64884402..64886500-chr12:56223721..56226196,2	MCF-7	breast:
15	chr12:56115949..56118195-chr12:56224037..56226803,2	MCF-7	breast:
16	chr12:56222612..56225517-chr12:56372520..56376647,5	MCF-7	breast:
17	chr12:56224868..56227212-chr8:144698115..144700196,2	MCF-7	breast:
18	chr12:56217492..56232243-chr12:56318854..56330686,48	MCF-7	breast:
19	chr12:56223409..56227527-chr12:56348845..56352516,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ORMDL2-1	chr12:56225041-56225686	NONHSAT028694
2	lnc-ORMDL2-1	chr12:56223744-56225327	NONHSAT028691

No data

Variant related genes	Relation type
TMEM198B	TF binding region
ENSG00000257390	TF binding region
DNAJC14	TF binding region
ENSG00000065361	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000123342	Chromatin interaction
ENSG00000237493	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000175711	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000104522	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000123411	Chromatin interaction
ENSG00000258056	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1081732	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10876851	0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10876852	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876854	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171681	0.83[CHB][hapmap]
rs11829536	0.90[JPT][hapmap]
rs12372076	0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1681087	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2291268	0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2694012	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2887998	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs3138139	1.00[CEU][hapmap]
rs3138140	1.00[CEU][hapmap]
rs7305787	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs772254	1.00[CEU][hapmap]
rs772262	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs772263	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7954619	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7954839	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56220000-56225400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:56222400-56225400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:56222400-56225600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:56222400-56225600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr12:56222600-56225400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr12:56222600-56225400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:56222600-56225400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:56222600-56225400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:56222600-56225400	Active TSS	HSMMtube	muscle
10	chr12:56222600-56225600	Active TSS	Fetal Kidney	kidney
11	chr12:56222600-56225600	Active TSS	NHDF-Ad	bronchial
12	chr12:56222600-56226000	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:56222800-56225400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:56222800-56225400	Active TSS	Ovary	ovary
15	chr12:56222800-56225600	Active TSS	Thymus	Thymus
16	chr12:56222800-56226000	Active TSS	Right Atrium	heart
17	chr12:56223000-56225600	Active TSS	Psoas Muscle	Psoas
18	chr12:56223600-56225400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr12:56223600-56225600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:56223800-56225400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr12:56223800-56225600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr12:56223800-56226200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:56224200-56225400	Flanking Active TSS	NHEK	skin
24	chr12:56224200-56225600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:56224200-56225600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:56224200-56225600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:56224400-56225400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:56224400-56225400	Flanking Active TSS	NH-A	brain
29	chr12:56224400-56225600	Flanking Active TSS	Dnd41	blood
30	chr12:56224400-56225600	Flanking Active TSS	Osteobl	bone
31	chr12:56224400-56225800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:56224600-56225400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr12:56224600-56225400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr12:56224600-56225400	Flanking Active TSS	HUVEC	blood vessel
35	chr12:56224600-56225400	Flanking Active TSS	K562	blood
36	chr12:56224600-56225600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr12:56224600-56225800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:56224600-56226400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:56224800-56225400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:56224800-56225400	Flanking Active TSS	Colonic Mucosa	Colon
41	chr12:56224800-56225400	Flanking Active TSS	Lung	lung
42	chr12:56224800-56225400	Flanking Active TSS	GM12878-XiMat	blood
43	chr12:56224800-56225600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:56224800-56225600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:56224800-56225600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr12:56224800-56225600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:56224800-56225600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:56224800-56225600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:56224800-56225600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr12:56224800-56225600	Flanking Active TSS	Fetal Muscle Leg	muscle

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