Variant report

Variant	rs1392588
Chromosome Location	chr12:67688340-67688341
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	KAP1	chr12:67688314-67688764	K562	blood:	n/a	n/a
2	POLR2A	chr12:67688268-67688365	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67687173..67689993-chr12:67691527..67694169,2	K562	blood:

Variant related genes	Relation type
CAND1	TF binding region
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1066392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082707	1.00[AFR][1000 genomes]
rs1082712	1.00[AFR][1000 genomes]
rs1082719	1.00[AFR][1000 genomes]
rs1143757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1186260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252411	1.00[AMR][1000 genomes]
rs1252420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252433	1.00[AFR][1000 genomes]
rs1392589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1658782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1697249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873224	1.00[AMR][1000 genomes]
rs710621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs74099424	1.00[AMR][1000 genomes]
rs74099464	1.00[AMR][1000 genomes]
rs775311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
3	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
6	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:67670000-67688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:67670400-67689600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:67670800-67688400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:67671000-67688800	Weak transcription	NHEK	skin
13	chr12:67671000-67689400	Weak transcription	NHLF	lung
14	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:67671600-67691800	Weak transcription	Fetal Brain Male	brain
16	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
17	chr12:67672400-67693800	Weak transcription	Psoas Muscle	Psoas
18	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
19	chr12:67674200-67688800	Weak transcription	Brain Angular Gyrus	brain
20	chr12:67674200-67694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:67674400-67696000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:67674600-67689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
25	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
26	chr12:67675600-67694600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:67676200-67691000	Weak transcription	HMEC	breast
28	chr12:67676800-67691800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:67678800-67688400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:67679000-67692200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:67679600-67692200	Weak transcription	Fetal Brain Female	brain
33	chr12:67680000-67696000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:67680600-67689800	Strong transcription	Fetal Intestine Large	intestine
35	chr12:67681000-67698200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
37	chr12:67681200-67688400	Weak transcription	K562	blood
38	chr12:67681200-67699200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:67681400-67689600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:67682200-67699400	Weak transcription	Pancreas	Pancrea
41	chr12:67682200-67709000	Strong transcription	Dnd41	blood
42	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:67682600-67688400	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:67682600-67688800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
47	chr12:67683400-67690400	Weak transcription	Left Ventricle	heart
48	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:67683800-67690200	Strong transcription	HSMM	muscle
50	chr12:67684000-67688600	Strong transcription	HepG2	liver

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