Variant report

Variant	rs12410075
Chromosome Location	chr1:214783185-214783186
allele	C/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	RCOR1	chr1:214783130-214783286	K562	blood:	n/a	n/a
2	IRF1	chr1:214783174-214783214	K562	blood:	n/a	n/a
3	POLR2A	chr1:214782560-214783228	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:

Variant related genes	Relation type
ABHD17AP3	TF binding region
ENSG00000117724	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10494983	0.94[AMR][1000 genomes]
rs10494984	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10864111	0.84[EUR][1000 genomes]
rs11120354	0.84[EUR][1000 genomes]
rs11120355	0.84[EUR][1000 genomes]
rs11120372	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11805402	0.87[AMR][1000 genomes]
rs12058704	0.94[AMR][1000 genomes]
rs12060367	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12067133	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12071057	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12081395	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12096879	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12097817	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12097854	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12404854	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405890	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405995	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12408129	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12408153	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12408289	0.81[EUR][1000 genomes]
rs12409422	0.81[EUR][1000 genomes]
rs1511049	0.82[ASN][1000 genomes]
rs1511050	0.82[ASN][1000 genomes]
rs17023274	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023275	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023278	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17023282	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17023284	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17023293	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17023299	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17023338	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17023380	0.94[AMR][1000 genomes]
rs17023384	0.94[AMR][1000 genomes]
rs2070066	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2280049	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2292377	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292379	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2666834	0.82[ASN][1000 genomes]
rs2666840	0.84[ASN][1000 genomes]
rs2807662	0.82[ASN][1000 genomes]
rs3748692	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3748695	0.94[AMR][1000 genomes]
rs3748696	0.94[AMR][1000 genomes]
rs3748698	0.94[AMR][1000 genomes]
rs3790646	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3790647	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3790648	0.94[AMR][1000 genomes]
rs3790649	0.94[AMR][1000 genomes]
rs3795514	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795516	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795517	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795518	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795519	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795520	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795522	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795523	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3795524	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs41303281	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58247244	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58724390	0.94[AMR][1000 genomes]
rs59918378	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60944459	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61546198	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6669573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3427707	chr1:214780854-214783702	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
4	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:214778200-214786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:214778200-214786600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:214778200-214791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:214778200-214791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:214778200-214793000	Weak transcription	HSMM	muscle
11	chr1:214778200-214793600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:214778200-214793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:214778400-214786600	Weak transcription	Osteobl	bone
15	chr1:214778400-214786800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:214778400-214794200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:214778600-214788000	Weak transcription	Hela-S3	cervix
18	chr1:214778600-214791200	Weak transcription	NHEK	skin
19	chr1:214778800-214783200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr1:214778800-214783200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:214778800-214783400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:214778800-214783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:214778800-214786000	Weak transcription	NHDF-Ad	bronchial
24	chr1:214778800-214786600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:214778800-214787600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:214778800-214787800	Weak transcription	HepG2	liver
27	chr1:214778800-214788800	Weak transcription	HMEC	breast
28	chr1:214778800-214794000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:214779000-214783200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:214779600-214783200	Strong transcription	Fetal Thymus	thymus
31	chr1:214779800-214783400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:214780800-214783400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:214780800-214783600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:214780800-214783600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr1:214781000-214783200	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:214781200-214783200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:214781200-214784600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:214781400-214786800	Weak transcription	NHLF	lung
40	chr1:214781400-214790600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:214781600-214791400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:214781800-214783200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr1:214781800-214783200	Strong transcription	K562	blood
44	chr1:214781800-214783600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:214781800-214792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:214781800-214794000	Weak transcription	Fetal Stomach	stomach
47	chr1:214781800-214795800	Weak transcription	Fetal Intestine Small	intestine
48	chr1:214782000-214803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:214782400-214783400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:214782600-214783200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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