Variant report

Variant	rs74076909
Chromosome Location	chr1:63154635-63154636
allele	A/C
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	STAT1	chr1:63154114-63154654	GM12878	blood:	n/a	chr1:63154360-63154380
2	POLR2A	chr1:63153586-63154671	IMR90	lung:	n/a	n/a
3	GTF2F1	chr1:63154054-63154762	Hela-S3	cervix:	n/a	n/a
4	STAT3	chr1:63154280-63154736	MCF10A-Er-Src	breast:	n/a	chr1:63154360-63154380
5	POLR2A	chr1:63153073-63154799	Hela-S3	cervix:	n/a	n/a
6	MAX	chr1:63153977-63154708	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF7L2	chr1:63153935-63154750	Hela-S3	cervix:	n/a	n/a
8	FOS	chr1:63154348-63155632	MCF10A-Er-Src	breast:	n/a	chr1:63155301-63155312 chr1:63154383-63154392
9	POLR2A	chr1:63152914-63154755	H1-neurons	neurons:	n/a	n/a
10	ZNF263	chr1:63153021-63154699	HEK293-T-REx	kidney:	n/a	chr1:63154134-63154143
11	TBP	chr1:63153008-63154675	K562	blood:	n/a	n/a
12	E2F4	chr1:63153749-63154787	MCF10A-Er-Src	breast:	n/a	chr1:63153796-63153806
13	RCOR1	chr1:63152200-63154891	IMR90	lung:	n/a	n/a
14	CHD1	chr1:63153931-63154855	IMR90	lung:	n/a	n/a
15	SMC3	chr1:63153997-63154700	Hela-S3	cervix:	n/a	n/a
16	BHLHE40	chr1:63153877-63154737	K562	blood:	n/a	chr1:63154459-63154475
17	POLR2A	chr1:63153160-63154648	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr1:63153090-63154669	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr1:63153582-63154638	SK-N-SH	brain:	n/a	chr1:63153682-63153696
20	MAZ	chr1:63152926-63154654	IMR90	lung:	n/a	n/a
21	MAFK	chr1:63153467-63154791	GM12878	blood:	n/a	n/a
22	MAX	chr1:63153082-63154707	Hela-S3	cervix:	n/a	n/a
23	TBP	chr1:63154105-63154753	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr1:63153842-63154663	HepG2	liver:	n/a	n/a
25	RCOR1	chr1:63153839-63154764	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr1:63154188-63154661	PANC-1	pancreas:	n/a	n/a
27	MXI1	chr1:63152706-63154756	IMR90	lung:	n/a	n/a
28	TBP	chr1:63153431-63154685	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:63152991-63154806	H1-hESC	embryonic stem cell:	n/a	n/a
30	SRF	chr1:63153989-63154645	ECC-1	luminal epithelium:	n/a	n/a
31	TCF7L2	chr1:63153235-63154721	HCT-116	colon:	n/a	n/a
32	SIN3A	chr1:63153039-63154677	H1-hESC	embryonic stem cell:	n/a	chr1:63153761-63153772
33	UBTF	chr1:63153045-63154663	K562	blood:	n/a	n/a
34	MAX	chr1:63153868-63154649	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr1:63153048-63154701	GM12878	blood:	n/a	n/a
36	REST	chr1:63152764-63154855	H1-neurons	neurons:	n/a	chr1:63153977-63153987 chr1:63154116-63154136 chr1:63154134-63154147
37	ZBTB7A	chr1:63154013-63154704	ECC-1	luminal epithelium:	n/a	n/a
38	CBX3	chr1:63153800-63154660	HCT-116	colon:	n/a	n/a
39	RAD21	chr1:63154005-63154658	IMR90	lung:	n/a	n/a
40	MXI1	chr1:63152116-63154856	SK-N-SH	brain:	n/a	n/a
41	SMARCB1	chr1:63153264-63154763	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
DOCK7	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10493323	1.00[EUR][1000 genomes]
rs1168121	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12563308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12563863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1408480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17123615	1.00[EUR][1000 genomes]
rs17123688	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123694	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123705	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17123712	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17123721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17123725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17123740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17123743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2016736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34898550	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36157139	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3737890	1.00[EUR][1000 genomes]
rs55709519	1.00[EUR][1000 genomes]
rs56094630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56193814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56792530	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57022388	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59505425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59662235	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59816054	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60339595	1.00[EUR][1000 genomes]
rs610248	1.00[EUR][1000 genomes]
rs61308091	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61501887	1.00[EUR][1000 genomes]
rs74076653	1.00[EUR][1000 genomes]
rs74076654	1.00[EUR][1000 genomes]
rs74076668	1.00[EUR][1000 genomes]
rs74076670	1.00[EUR][1000 genomes]
rs74076686	1.00[EUR][1000 genomes]
rs74076689	1.00[EUR][1000 genomes]
rs74076691	1.00[EUR][1000 genomes]
rs74076695	1.00[EUR][1000 genomes]
rs74076699	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74076907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74078610	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74078643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74078661	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3443740	chr1:63152389-63155337	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3437839	chr1:63152564-63156062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63151800-63155200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:63152200-63154800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:63152200-63155000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:63152200-63155200	Active TSS	NHLF	lung
5	chr1:63152200-63155400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:63152400-63154800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:63152400-63154800	Active TSS	Fetal Muscle Trunk	muscle
8	chr1:63152400-63154800	Active TSS	Psoas Muscle	Psoas
9	chr1:63152400-63155200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:63152600-63154800	Active TSS	Fetal Intestine Large	intestine
11	chr1:63152600-63155000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:63152600-63155000	Active TSS	Brain Anterior Caudate	brain
13	chr1:63152600-63155000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:63152600-63155000	Active TSS	NHDF-Ad	bronchial
15	chr1:63152600-63155200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:63152600-63155400	Active TSS	Fetal Stomach	stomach
17	chr1:63152600-63155600	Active TSS	Duodenum Mucosa	Duodenum
18	chr1:63152800-63154800	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:63152800-63154800	Active TSS	Thymus	Thymus
20	chr1:63152800-63154800	Active TSS	HSMM	muscle
21	chr1:63152800-63155000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:63152800-63155000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:63152800-63155000	Active TSS	Fetal Brain Female	brain
24	chr1:63152800-63155200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:63152800-63155200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:63152800-63155200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:63152800-63155200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:63152800-63155200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:63152800-63155200	Active TSS	Fetal Kidney	kidney
30	chr1:63152800-63155200	Active TSS	Stomach Mucosa	stomach
31	chr1:63152800-63155400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:63152800-63155600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:63152800-63155600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:63152800-63155600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:63152800-63156200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:63153000-63154800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:63153000-63154800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:63153000-63154800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:63153000-63154800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:63153000-63154800	Active TSS	Aorta	Aorta
41	chr1:63153000-63154800	Active TSS	Brain Substantia Nigra	brain
42	chr1:63153000-63154800	Active TSS	Colonic Mucosa	Colon
43	chr1:63153000-63154800	Active TSS	Colon Smooth Muscle	Colon
44	chr1:63153000-63154800	Active TSS	Gastric	stomach
45	chr1:63153000-63154800	Active TSS	Pancreas	Pancrea
46	chr1:63153000-63154800	Active TSS	Right Ventricle	heart
47	chr1:63153000-63154800	Active TSS	A549	lung
48	chr1:63153000-63154800	Bivalent/Poised TSS	HepG2	liver
49	chr1:63153000-63155000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:63153000-63155000	Active TSS	NH-A	brain

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