Variant report

Variant	rs74137729
Chromosome Location	chr10:43932034-43932035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:392)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr10:43931884-43932612	K562	blood:	n/a	n/a
2	POLR2A	chr10:43931969-43932715	PFSK-1	brain:	n/a	n/a
3	YY1	chr10:43932014-43932605	SK-N-SH_RA	brain:	n/a	chr10:43932543-43932554
4	YY1	chr10:43931969-43932653	GM12891	blood:	n/a	chr10:43932543-43932554
5	YY1	chr10:43931976-43932509	HepG2	liver:	n/a	n/a
6	YY1	chr10:43931891-43932669	A549	lung:	n/a	chr10:43932543-43932554
7	NRF1	chr10:43931813-43932632	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr10:43931690-43932679	K562	blood:	n/a	n/a
9	POLR2A	chr10:43931900-43932646	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:43931950-43932734	HCT-116	colon:	n/a	n/a
11	CREB1	chr10:43931653-43932946	HepG2	liver:	n/a	n/a
12	CHD2	chr10:43931733-43933039	Hela-S3	cervix:	n/a	n/a
13	NFIC	chr10:43931659-43932718	GM12878	blood:	n/a	n/a
14	TCF12	chr10:43931699-43932762	A549	lung:	n/a	chr10:43932408-43932418
15	TAF1	chr10:43931976-43932677	GM12878	blood:	n/a	n/a
16	MYC	chr10:43931607-43932721	K562	blood:	n/a	chr10:43932575-43932584
17	YY1	chr10:43931687-43932824	K562	blood:	n/a	chr10:43932543-43932554 chr10:43932718-43932729
18	CTCF	chr10:43931946-43932359	K562	blood:	n/a	n/a
19	BRCA1	chr10:43931939-43932528	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr10:43931750-43932664	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr10:43931846-43932682	GM18505	blood:	n/a	n/a
22	GABPA	chr10:43931986-43932713	MCF-7	breast:	n/a	n/a
23	EP300	chr10:43931532-43932622	K562	blood:	n/a	chr10:43932545-43932554
24	HDAC2	chr10:43931696-43933054	MCF-7	breast:	n/a	chr10:43932058-43932077 chr10:43932113-43932127
25	BCL3	chr10:43931842-43932588	A549	lung:	n/a	chr10:43932535-43932548
26	TAF1	chr10:43931956-43932631	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr10:43931969-43932837	H1-hESC	embryonic stem cell:	n/a	n/a
28	HCFC1	chr10:43931612-43933039	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr10:43931835-43932737	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:43932026-43932613	GM10847	blood:	n/a	n/a
31	CEBPB	chr10:43931687-43932523	K562	blood:	n/a	n/a
32	SIN3A	chr10:43931829-43932984	H1-hESC	embryonic stem cell:	n/a	chr10:43932237-43932246 chr10:43932171-43932182
33	POLR2A	chr10:43931818-43932693	K562	blood:	n/a	n/a
34	CTCF	chr10:43932020-43932170	HCM	heart:	n/a	n/a
35	MYBL2	chr10:43931706-43932584	HepG2	liver:	n/a	n/a
36	POLR2A	chr10:43931985-43932608	GM12878	blood:	n/a	n/a
37	TFAP2A	chr10:43931697-43932589	Hela-S3	cervix:	n/a	chr10:43932196-43932208 chr10:43932196-43932208 chr10:43932196-43932208 chr10:43932196-43932208
38	POLR2A	chr10:43931846-43932696	GM18951	blood:	n/a	n/a
39	THAP1	chr10:43931867-43932354	K562	blood:	n/a	n/a
40	TAF1	chr10:43931856-43932667	A549	lung:	n/a	n/a
41	HEY1	chr10:43931621-43932771	K562	blood:	n/a	chr10:43932715-43932730
42	ELF1	chr10:43931719-43932753	MCF-7	breast:	n/a	chr10:43932236-43932248 chr10:43932119-43932130
43	GTF2F1	chr10:43931872-43932699	K562	blood:	n/a	n/a
44	BHLHE40	chr10:43931955-43932635	GM12878	blood:	n/a	n/a
45	MAX	chr10:43931757-43932670	A549	lung:	n/a	chr10:43932575-43932584
46	POLR2A	chr10:43931673-43932876	PANC-1	pancreas:	n/a	n/a
47	ZBTB7A	chr10:43931765-43932960	K562	blood:	n/a	chr10:43932495-43932504 chr10:43932559-43932568
48	STAT5A	chr10:43931787-43932348	GM12878	blood:	n/a	n/a
49	RAD21	chr10:43931736-43932373	HepG2	liver:	n/a	n/a
50	SMC3	chr10:43931734-43933087	Hela-S3	cervix:	n/a	chr10:43932729-43932739

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43931988-43932038	SK-N-MC	brain:	n/a
2	chr10:43931988-43932038	ECC-1	luminal epithelium:	n/a
3	chr10:43931988-43932038	PANC-1	pancreas:	n/a
4	chr10:43931988-43932038	GM12892	blood:	n/a
5	chr10:43931988-43932038	AoSMC	blood vessel:	n/a
6	chr10:43931988-43932038	HRE	kidney:	n/a
7	chr10:43931988-43932038	GM19239	blood:	n/a
8	chr10:43931988-43932038	MCF-7	breast:	n/a
9	chr10:43931988-43932038	CMK	blood:	n/a
10	chr10:43931988-43932038	HCF	heart:	n/a
11	chr10:43931988-43932038	HUVEC	blood vessel:	n/a
12	chr10:43931988-43932038	SK-N-SH_RA	brain:	n/a
13	chr10:43931988-43932038	H1-hESC	embryonic stem cell:	embryo
14	chr10:43931988-43932038	Caco-2	colon:	n/a
15	chr10:43931988-43932038	HCT-116	colon:	n/a
16	chr10:43931988-43932038	HPAEpiC	pulmonary alveolar:	n/a
17	chr10:43931988-43932038	HMEC	breast:	n/a
18	chr10:43931988-43932038	AG04450	lung:	fetal
19	chr10:43931988-43932038	MCF10A-Er-Src	breast:	n/a
20	chr10:43931988-43932038	HRCEpiC	kidney:	n/a
21	chr10:43931988-43932038	HCPEpiC	choroid plexus:	n/a
22	chr10:43931988-43932038	HepG2	liver:	n/a
23	chr10:43931988-43932038	NB4	blood:	n/a
24	chr10:43931988-43932038	BE2_C	brain:	n/a
25	chr10:43931988-43932038	HEK293	kidney:	embryo
26	chr10:43931988-43932038	HL-60	blood:	n/a
27	chr10:43931988-43932038	AG09309	skin:	n/a
28	chr10:43931988-43932038	HEEpiC	esophagus:	n/a
29	chr10:43931988-43932038	T-47D	breast:	n/a
30	chr10:43931988-43932038	HIPEpiC	eye:	n/a
31	chr10:43931988-43932038	AG10803	skin:	n/a
32	chr10:43931988-43932038	GM12891	blood:	n/a
33	chr10:43931988-43932038	ovcar-3	ovarian:	n/a
34	chr10:43931988-43932038	GM06990	blood:	n/a
35	chr10:43931988-43932038	HAEpiC	amniotic membrane:	n/a
36	chr10:43931988-43932038	PFSK-1	brain:	n/a
37	chr10:43931988-43932038	HCM	heart:	n/a
38	chr10:43931988-43932038	A549	lung:	n/a
39	chr10:43931988-43932038	PrEC	prostate:	n/a
40	chr10:43931988-43932038	IMR90	lung:	fetal
41	chr10:43931988-43932038	SK-N-SH	brain:	n/a
42	chr10:43931988-43932038	K562	blood:	n/a
43	chr10:43931988-43932038	AG09319	gingival:	n/a
44	chr10:43931988-43932038	Hepatocyte	liver:	n/a
45	chr10:43931988-43932038	AG04449	skin:	fetal
46	chr10:43931988-43932038	U87	brain:	n/a
47	chr10:43931988-43932038	LNCaP	prostate:	n/a
48	chr10:43931988-43932038	NHBE	bronchial:	n/a
49	chr10:43931988-43932038	ProgFib	skin:	n/a
50	chr10:43931988-43932038	SKMC	muscle:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43903244..43904543-chr10:43931320..43932838,6	Hela-S3	cervix:
2	chr10:43931979..43932697-chr12:46765935..46766466,2	Hela-S3	cervix:
3	chr10:43889891..43893674-chr10:43930869..43934431,5	MCF-7	breast:
4	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
5	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
6	chr10:43931567..43932335-chr8:33342087..33342660,2	Hela-S3	cervix:
7	chr10:43931809..43932733-chr9:86594490..86595462,2	Hela-S3	cervix:
8	chr10:43931795..43932553-chr16:68271279..68271889,2	Hela-S3	cervix:
9	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
10	chr10:43930452..43932223-chr17:43227607..43229368,2	K562	blood:
11	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
12	chr1:45987496..45988124-chr10:43931979..43932884,2	Hela-S3	cervix:
13	chr10:43931883..43932765-chr16:4524215..4524734,2	Hela-S3	cervix:
14	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
15	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF487	TF binding region
ZNF487	CpG island
ENSG00000117450	Chromatin interaction
ENSG00000261469	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000103415	Chromatin interaction
ENSG00000198042	Chromatin interaction
ENSG00000221400	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000230555	Chromatin interaction
ENSG00000153406	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55969732	1.00[EUR][1000 genomes]
rs55984046	1.00[EUR][1000 genomes]
rs56067782	1.00[EUR][1000 genomes]
rs56305563	1.00[EUR][1000 genomes]
rs56706302	1.00[EUR][1000 genomes]
rs57050417	1.00[EUR][1000 genomes]
rs57169447	1.00[EUR][1000 genomes]
rs58036139	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58052353	1.00[EUR][1000 genomes]
rs58345794	1.00[EUR][1000 genomes]
rs58594005	1.00[EUR][1000 genomes]
rs59737279	1.00[EUR][1000 genomes]
rs59946114	1.00[EUR][1000 genomes]
rs73267969	1.00[EUR][1000 genomes]
rs74135720	1.00[EUR][1000 genomes]
rs74135736	1.00[EUR][1000 genomes]
rs74137730	1.00[EUR][1000 genomes]
rs74137733	1.00[EUR][1000 genomes]
rs74137734	1.00[EUR][1000 genomes]
rs74137735	1.00[EUR][1000 genomes]
rs74137736	1.00[EUR][1000 genomes]
rs74137737	1.00[EUR][1000 genomes]
rs74137738	1.00[EUR][1000 genomes]
rs74137739	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43930400-43933000	Active TSS	Hela-S3	cervix
2	chr10:43930600-43933000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:43930800-43933200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:43930800-43933200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr10:43931000-43932800	Active TSS	Brain Hippocampus Middle	brain
6	chr10:43931000-43932800	Active TSS	NHEK	skin
7	chr10:43931000-43933000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:43931000-43933000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:43931000-43933000	Active TSS	HSMM	muscle
10	chr10:43931000-43933200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:43931000-43933200	Active TSS	A549	lung
12	chr10:43931200-43932800	Active TSS	Liver	Liver
13	chr10:43931200-43932800	Active TSS	Duodenum Mucosa	Duodenum
14	chr10:43931200-43932800	Active TSS	Stomach Smooth Muscle	stomach
15	chr10:43931200-43932800	Active TSS	Dnd41	blood
16	chr10:43931200-43932800	Active TSS	HMEC	breast
17	chr10:43931200-43932800	Active TSS	K562	blood
18	chr10:43931200-43933200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:43931200-43933200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr10:43931200-43933200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr10:43931400-43932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:43931400-43932200	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr10:43931400-43932200	Flanking Active TSS	Placenta	Placenta
24	chr10:43931400-43932600	Active TSS	Colonic Mucosa	Colon
25	chr10:43931400-43932800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:43931400-43932800	Active TSS	Rectal Smooth Muscle	rectum
27	chr10:43931400-43933000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:43931400-43933000	Active TSS	Psoas Muscle	Psoas
29	chr10:43931400-43933200	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr10:43931400-43933200	Active TSS	Fetal Intestine Large	intestine
31	chr10:43931400-43933200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr10:43931400-43933200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr10:43931400-43933400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr10:43931600-43932200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr10:43931600-43932200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr10:43931600-43932200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr10:43931600-43932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:43931600-43932200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr10:43931600-43932200	Flanking Active TSS	NH-A	brain
40	chr10:43931600-43932800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr10:43931600-43932800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:43931600-43932800	Active TSS	Primary T cells from cord blood	blood
43	chr10:43931600-43932800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:43931600-43932800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr10:43931600-43932800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:43931600-43932800	Active TSS	Aorta	Aorta
47	chr10:43931600-43932800	Active TSS	Brain Angular Gyrus	brain
48	chr10:43931600-43932800	Active TSS	Brain Anterior Caudate	brain
49	chr10:43931600-43932800	Active TSS	Esophagus	oesophagus
50	chr10:43931600-43932800	Active TSS	Fetal Stomach	stomach

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