Variant report

Variant	rs2668293
Chromosome Location	chr12:32275173-32275174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32264689..32269066-chr12:32271365..32275666,5	K562	blood:
2	chr12:32270760..32273640-chr12:32274008..32276299,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10743783	0.85[ASN][1000 genomes]
rs10771917	0.84[ASN][1000 genomes]
rs10771921	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10844137	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10844139	0.83[AMR][1000 genomes]
rs1151009	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1151010	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1151011	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1151012	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1151016	0.85[EUR][1000 genomes]
rs1151020	0.85[ASN][1000 genomes]
rs1260708	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1261166	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1618256	0.83[EUR][1000 genomes]
rs1631036	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1673857	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1673858	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1684146	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1684149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716941	0.81[EUR][1000 genomes]
rs1798260	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1798265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2458120	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2594013	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2594014	0.84[ASN][1000 genomes]
rs2630566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2630578	0.81[ASN][1000 genomes]
rs2630579	0.84[ASN][1000 genomes]
rs2652014	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2652018	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2668299	0.83[ASN][1000 genomes]
rs2668301	0.84[ASN][1000 genomes]
rs2668302	0.84[ASN][1000 genomes]
rs2668303	0.84[ASN][1000 genomes]
rs2668306	0.84[ASN][1000 genomes]
rs2683491	0.80[EUR][1000 genomes]
rs4931612	0.81[ASN][1000 genomes]
rs4931613	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4931614	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4931615	0.81[ASN][1000 genomes]
rs4931616	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6488034	0.83[AMR][1000 genomes];0.81[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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
4	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
5	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
6	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:32268800-32287200	Weak transcription	Lung	lung
8	chr12:32269000-32277600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:32269000-32277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:32269000-32285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:32269000-32286400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:32269000-32286400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:32269000-32287400	Weak transcription	Aorta	Aorta
14	chr12:32269000-32287400	Weak transcription	Spleen	Spleen
15	chr12:32269000-32340200	Weak transcription	Dnd41	blood
16	chr12:32269200-32277400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:32269200-32287000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:32269200-32287200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:32269400-32286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:32269800-32286400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:32270400-32278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:32270400-32279600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32270600-32277600	Weak transcription	NHLF	lung
24	chr12:32270600-32278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:32270600-32285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:32270600-32287000	Weak transcription	HSMMtube	muscle
27	chr12:32270600-32287000	Weak transcription	HUVEC	blood vessel
28	chr12:32270600-32287200	Weak transcription	NHEK	skin
29	chr12:32272000-32277600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:32272000-32288600	Weak transcription	Fetal Intestine Small	intestine
31	chr12:32272200-32276800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:32272200-32287000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:32272200-32287200	Weak transcription	Left Ventricle	heart
34	chr12:32272400-32276200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:32272400-32278000	Weak transcription	HMEC	breast
36	chr12:32272400-32280400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:32272600-32277600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:32272600-32277600	Weak transcription	Ovary	ovary
39	chr12:32272600-32277800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:32272800-32277600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:32273600-32276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:32273600-32277400	Weak transcription	Osteobl	bone
43	chr12:32273600-32277600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:32273600-32278200	Weak transcription	HSMM	muscle
45	chr12:32273600-32279800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:32273600-32292200	Weak transcription	Small Intestine	intestine
47	chr12:32273800-32275600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:32273800-32277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:32273800-32277000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:32273800-32277200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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