Variant report

Variant	rs74121893
Chromosome Location	chr10:23004151-23004152
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	POLR2A	chr10:23001941-23004344	GM12892	blood:	n/a	n/a
2	MXI1	chr10:23000923-23004170	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr10:23001569-23004394	IMR90	lung:	n/a	n/a
4	POLR2A	chr10:23001201-23004277	GM18505	blood:	n/a	n/a
5	POLR2A	chr10:23001832-23004525	GM12892	blood:	n/a	n/a
6	BHLHE40	chr10:23002959-23004372	K562	blood:	n/a	chr10:23003671-23003687 chr10:23003674-23003690 chr10:23003663-23003679 chr10:23003492-23003508 chr10:23003020-23003036
7	POLR2A	chr10:23001700-23004437	GM19099	blood:	n/a	n/a
8	POLR2A	chr10:23002016-23004252	GM19193	blood:	n/a	n/a
9	E2F6	chr10:23003413-23004201	H1-hESC	embryonic stem cell:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
10	MAX	chr10:23003355-23004196	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr10:23001527-23004155	IMR90	lung:	n/a	n/a
12	POLR2A	chr10:23002749-23004389	GM12892	blood:	n/a	n/a
13	MAX	chr10:23003475-23004231	NB4	blood:	n/a	n/a
14	POLR2A	chr10:23001985-23004290	K562	blood:	n/a	n/a
15	CHD2	chr10:23003012-23004171	GM12878	blood:	n/a	chr10:23003016-23003026
16	MAZ	chr10:23001690-23004494	K562	blood:	n/a	n/a
17	POLR2A	chr10:23001999-23004410	Raji	blood:	n/a	n/a
18	MAX	chr10:23002891-23004155	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr10:23004017-23004153	MCF-7	breast:	n/a	n/a
20	POLR2A	chr10:23004074-23004168	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr10:23002092-23004350	A549	lung:	n/a	n/a
22	POLR2A	chr10:23001241-23004415	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:23002823-23004264	K562	blood:	n/a	n/a
24	ZNF384	chr10:23004004-23004421	K562	blood:	n/a	n/a
25	POLR2A	chr10:23001975-23004321	GM18951	blood:	n/a	n/a
26	RUNX3	chr10:23003383-23004181	GM12878	blood:	n/a	n/a
27	E2F6	chr10:23002543-23004242	K562	blood:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
28	ELF1	chr10:23003353-23004194	GM12878	blood:	n/a	chr10:23003662-23003674
29	E2F6	chr10:23003511-23004211	A549	lung:	n/a	chr10:23003655-23003667 chr10:23003867-23003878 chr10:23003797-23003808
30	POLR2A	chr10:22999999-23004481	PBDE	blood:	n/a	n/a
31	POLR2A	chr10:23001974-23004214	GM15510	blood:	n/a	n/a
32	TBL1XR1	chr10:23003819-23004396	K562	blood:	n/a	n/a
33	POLR2A	chr10:23002893-23004514	GM12891	blood:	n/a	n/a
34	POLR2A	chr10:23001556-23004555	GM12878	blood:	n/a	n/a
35	MTA3	chr10:23003619-23004509	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:23002012-23004359	K562	blood:	n/a	n/a
37	POLR2A	chr10:23002249-23004340	GM18526	blood:	n/a	n/a
38	SMARCB1	chr10:23002029-23004162	Hela-S3	cervix:	n/a	n/a
39	MAFK	chr10:23003974-23004161	K562	blood:	n/a	n/a
40	POLR2A	chr10:23003559-23004360	K562	blood:	n/a	n/a
41	MAX	chr10:23003382-23004205	A549	lung:	n/a	n/a
42	HCFC1	chr10:23003098-23004436	K562	blood:	n/a	n/a
43	POLR2A	chr10:23003007-23004192	K562	blood:	n/a	n/a
44	MAX	chr10:23003399-23004152	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr10:23002911-23004369	IMR90	lung:	n/a	chr10:23003842-23003855 chr10:23002944-23002954 chr10:23002937-23002949
46	MAX	chr10:23003578-23004174	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr10:23003375-23004161	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22862798..22864758-chr10:23003498..23006178,2	K562	blood:
2	chr10:23003493..23005808-chr10:23014761..23017222,2	MCF-7	breast:
3	chr10:22606981..22611063-chr10:23000780..23004970,4	K562	blood:

Variant related genes	Relation type
PIP4K2A	TF binding region
ENSG00000148444	Chromatin interaction
ENSG00000168283	Chromatin interaction
ENSG00000269897	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11013124	1.00[EUR][1000 genomes]
rs12240894	1.00[EUR][1000 genomes]
rs12256270	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12266336	1.00[EUR][1000 genomes]
rs12266776	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12267858	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1343505	0.93[ASN][1000 genomes]
rs1544228	0.89[ASN][1000 genomes]
rs16922558	0.88[ASN][1000 genomes]
rs16922574	0.88[ASN][1000 genomes]
rs16922619	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922627	1.00[ASN][1000 genomes]
rs16922629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922631	0.91[ASN][1000 genomes]
rs16922641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16922673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16922697	1.00[EUR][1000 genomes]
rs2032026	0.83[EUR][1000 genomes]
rs2032027	0.83[EUR][1000 genomes]
rs2068726	0.89[ASN][1000 genomes]
rs2153534	0.84[ASN][1000 genomes]
rs55855627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56412842	0.88[ASN][1000 genomes]
rs57280862	0.95[ASN][1000 genomes]
rs58587913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58847346	0.95[ASN][1000 genomes]
rs58854363	0.83[EUR][1000 genomes]
rs59134467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59278361	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59573145	0.89[ASN][1000 genomes]
rs59760845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59908513	0.95[ASN][1000 genomes]
rs60284138	0.88[ASN][1000 genomes]
rs61295423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61587496	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6482231	0.95[ASN][1000 genomes]
rs6482237	0.89[ASN][1000 genomes]
rs67864649	0.93[ASN][1000 genomes]
rs7070712	0.91[ASN][1000 genomes]
rs7078244	0.93[ASN][1000 genomes]
rs72816902	0.93[ASN][1000 genomes]
rs73598599	1.00[ASN][1000 genomes]
rs73598600	1.00[ASN][1000 genomes]
rs73598601	1.00[ASN][1000 genomes]
rs73600503	0.91[ASN][1000 genomes]
rs74121608	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74121610	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74121611	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74121869	0.83[EUR][1000 genomes]
rs74121889	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74121891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74121894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74121897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74125205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74125206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906229	0.89[ASN][1000 genomes]
rs7914338	0.86[ASN][1000 genomes]
rs7917205	0.89[ASN][1000 genomes]
rs9651372	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3330079	chr10:23002696-23004844	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23000400-23004200	Active TSS	Aorta	Aorta
2	chr10:23001000-23004400	Active TSS	Rectal Smooth Muscle	rectum
3	chr10:23001200-23004200	Active TSS	Fetal Kidney	kidney
4	chr10:23001400-23004200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr10:23001400-23004400	Active TSS	HSMMtube	muscle
6	chr10:23001800-23004200	Active TSS	HSMM	muscle
7	chr10:23002000-23004200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:23002000-23004400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:23002000-23004600	Active TSS	Colon Smooth Muscle	Colon
10	chr10:23002200-23004200	Active TSS	NH-A	brain
11	chr10:23002400-23004200	Active TSS	Colonic Mucosa	Colon
12	chr10:23003600-23004200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr10:23003600-23004200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:23003600-23004200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr10:23003600-23004200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:23003600-23004200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:23003600-23004200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:23003600-23004200	Flanking Active TSS	Liver	Liver
19	chr10:23003600-23004400	Flanking Active TSS	Dnd41	blood
20	chr10:23003600-23004400	Flanking Active TSS	HMEC	breast
21	chr10:23003800-23004200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:23003800-23004200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:23003800-23004200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr10:23003800-23004200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:23003800-23004200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:23003800-23004200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr10:23003800-23004200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr10:23003800-23004200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr10:23003800-23004200	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr10:23003800-23004200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr10:23003800-23004200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr10:23003800-23004200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:23003800-23004200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr10:23003800-23004200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:23003800-23004200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr10:23003800-23004200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:23003800-23004200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:23003800-23004200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr10:23003800-23004200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:23003800-23004200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr10:23003800-23004200	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr10:23003800-23004200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr10:23003800-23004200	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr10:23003800-23004200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr10:23003800-23004200	Flanking Active TSS	Fetal Brain Female	brain
46	chr10:23003800-23004200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr10:23003800-23004200	Flanking Active TSS	Fetal Lung	lung
48	chr10:23003800-23004200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr10:23003800-23004200	Flanking Active TSS	Placenta	Placenta
50	chr10:23003800-23004200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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