Variant report

Variant	rs11255033
Chromosome Location	chr10:5652869-5652870
allele	A/T
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	SP1	chr10:5652562-5652986	HepG2	liver:	n/a	chr10:5652834-5652843 chr10:5652835-5652844
2	POLR2A	chr10:5651732-5653009	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF7L2	chr10:5652766-5653015	Hela-S3	cervix:	n/a	n/a
4	SIN3AK20	chr10:5652602-5653009	A549	lung:	n/a	n/a
5	STAT3	chr10:5651825-5653098	MCF10A-Er-Src	breast:	n/a	chr10:5651975-5651987 chr10:5652830-5652842 chr10:5652120-5652131
6	MAX	chr10:5652670-5653050	A549	lung:	n/a	n/a
7	MAX	chr10:5652719-5652946	HepG2	liver:	n/a	n/a
8	YY1	chr10:5652685-5652966	HepG2	liver:	n/a	n/a
9	REST	chr10:5652818-5653051	A549	lung:	n/a	n/a
10	POLR2A	chr10:5652607-5653059	HCT-116	colon:	n/a	n/a
11	STAT3	chr10:5651879-5652961	MCF10A-Er-Src	breast:	n/a	chr10:5651975-5651987 chr10:5652830-5652842 chr10:5652120-5652131
12	HNF4A	chr10:5652609-5652990	HepG2	liver:	n/a	chr10:5652764-5652782 chr10:5652767-5652779 chr10:5652766-5652779 chr10:5652766-5652781 chr10:5652772-5652780 chr10:5652766-5652780 chr10:5652766-5652781 chr10:5652766-5652781 chr10:5652767-5652780 chr10:5652767-5652779 chr10:5652765-5652780 chr10:5652767-5652779 chr10:5652766-5652780 chr10:5652766-5652781 chr10:5652767-5652779
13	RAD21	chr10:5652702-5652882	HepG2	liver:	n/a	n/a
14	MYC	chr10:5652415-5653066	A549	lung:	n/a	n/a
15	SP1	chr10:5652459-5653222	HCT-116	colon:	n/a	chr10:5652834-5652843 chr10:5652835-5652844
16	MXI1	chr10:5652653-5652977	HepG2	liver:	n/a	n/a
17	POLR2A	chr10:5652689-5652953	HepG2	liver:	n/a	n/a
18	FOSL2	chr10:5652615-5652998	HepG2	liver:	n/a	chr10:5652886-5652894
19	STAT3	chr10:5651906-5653022	MCF10A-Er-Src	breast:	n/a	chr10:5651975-5651987 chr10:5652830-5652842 chr10:5652120-5652131
20	SP1	chr10:5651745-5653119	A549	lung:	n/a	chr10:5652834-5652843 chr10:5651941-5651955 chr10:5652835-5652844
21	POLR2A	chr10:5652544-5653040	U87	brain:	n/a	n/a
22	MAZ	chr10:5652680-5652990	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:5652660-5652976	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr10:5652649-5653015	HepG2	liver:	n/a	n/a
25	POLR2A	chr10:5652650-5652963	U87	brain:	n/a	n/a
26	POLR2A	chr10:5652647-5652942	A549	lung:	n/a	n/a
27	MAZ	chr10:5652701-5652941	Hela-S3	cervix:	n/a	n/a
28	HNF4G	chr10:5652607-5653023	HepG2	liver:	n/a	chr10:5652764-5652782 chr10:5652767-5652779 chr10:5652766-5652779 chr10:5652764-5652779 chr10:5652766-5652781 chr10:5652772-5652780 chr10:5652766-5652780 chr10:5652766-5652781 chr10:5652766-5652781 chr10:5652767-5652780 chr10:5652767-5652779 chr10:5652767-5652779 chr10:5652766-5652780 chr10:5652766-5652781 chr10:5652767-5652779
29	YY1	chr10:5652689-5652925	HCT-116	colon:	n/a	n/a
30	SIN3AK20	chr10:5652645-5652961	A549	lung:	n/a	n/a
31	HEY1	chr10:5652591-5652910	HepG2	liver:	n/a	n/a
32	RAD21	chr10:5652714-5652921	Hela-S3	cervix:	n/a	n/a
33	MAX	chr10:5651761-5653138	A549	lung:	n/a	n/a
34	BCL3	chr10:5652537-5653052	A549	lung:	n/a	n/a
35	YY1	chr10:5652656-5652947	A549	lung:	n/a	n/a
36	POLR2A	chr10:5652641-5652876	A549	lung:	n/a	n/a
37	TCF12	chr10:5652528-5653347	A549	lung:	n/a	n/a
38	USF1	chr10:5652632-5653029	A549	lung:	n/a	n/a
39	HNF4A	chr10:5652625-5652989	HepG2	liver:	n/a	chr10:5652764-5652782 chr10:5652767-5652779 chr10:5652766-5652779 chr10:5652766-5652781 chr10:5652772-5652780 chr10:5652766-5652780 chr10:5652766-5652781 chr10:5652766-5652781 chr10:5652767-5652780 chr10:5652767-5652779 chr10:5652765-5652780 chr10:5652767-5652779 chr10:5652766-5652780 chr10:5652766-5652781 chr10:5652767-5652779
40	FOS	chr10:5652655-5653076	MCF10A-Er-Src	breast:	n/a	chr10:5652886-5652894
41	POLR2A	chr10:5652630-5652913	Hela-S3	cervix:	n/a	n/a
42	MAX	chr10:5651331-5653241	HCT-116	colon:	n/a	n/a
43	FOSL2	chr10:5652608-5653015	A549	lung:	n/a	chr10:5652886-5652894
44	FOSL2	chr10:5652468-5653176	A549	lung:	n/a	chr10:5652886-5652894
45	NR3C1	chr10:5652666-5653067	A549	lung:	n/a	n/a
46	JUND	chr10:5652645-5652934	HepG2	liver:	n/a	chr10:5652886-5652894 chr10:5652739-5652750
47	RFX5	chr10:5652739-5653052	Hela-S3	cervix:	n/a	n/a
48	NR3C1	chr10:5652645-5652989	A549	lung:	n/a	n/a
49	FOS	chr10:5652620-5653044	MCF10A-Er-Src	breast:	n/a	chr10:5652886-5652894
50	MYC	chr10:5652655-5653060	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5637418..5639003-chr10:5650901..5653188,2	MCF-7	breast:
2	chr10:5486648..5491055-chr10:5645215..5653179,9	MCF-7	breast:
3	chr10:5652672..5654514-chr10:5659912..5662392,2	MCF-7	breast:
4	chr10:5634973..5639659-chr10:5649443..5654538,7	MCF-7	breast:
5	chr10:5651351..5653513-chr10:5657933..5661985,4	K562	blood:

Variant related genes	Relation type
ENSG00000231483	TF binding region
ENSG00000228951	Chromatin interaction
ENSG00000242147	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11254968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11254973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11254986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11255036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11255587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11255592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11255641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11255736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11255935	1.00[EUR][1000 genomes]
rs11255947	1.00[EUR][1000 genomes]
rs11256040	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11256331	1.00[EUR][1000 genomes]
rs11256654	1.00[EUR][1000 genomes]
rs11256767	0.92[EUR][1000 genomes]
rs11257244	0.92[EUR][1000 genomes]
rs11257371	0.92[EUR][1000 genomes]
rs11812356	0.98[ASN][1000 genomes]
rs12354690	1.00[EUR][1000 genomes]
rs1575	1.00[EUR][1000 genomes]
rs17137747	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17142002	1.00[EUR][1000 genomes]
rs17142061	1.00[EUR][1000 genomes]
rs17142275	1.00[EUR][1000 genomes]
rs41290335	1.00[EUR][1000 genomes]
rs41290337	1.00[EUR][1000 genomes]
rs41290339	1.00[EUR][1000 genomes]
rs58027065	1.00[EUR][1000 genomes]
rs60879535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9645604	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1040932	chr10:5637870-5665774	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv466718	chr10:5639907-5657527	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv549890	chr10:5639907-5657527	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv894806	chr10:5643511-5670275	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1054888	chr10:5645033-5694612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv466719	chr10:5645895-5662915	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv549891	chr10:5645895-5662915	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv519582	chr10:5646103-5720067	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv894807	chr10:5647942-5691135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv8599	chr10:5649129-5719928	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv1050965	chr10:5649760-5717125	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv1044330	chr10:5652006-5717125	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv975791	chr10:5652225-5711077	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv466720	chr10:5652277-5715401	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv549892	chr10:5652277-5715401	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv1037709	chr10:5652739-5717125	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5649000-5657400	Weak transcription	Left Ventricle	heart
2	chr10:5650000-5653000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:5650200-5662600	Enhancers	Fetal Muscle Leg	muscle
4	chr10:5650400-5653000	Enhancers	NHDF-Ad	bronchial
5	chr10:5650400-5661800	Enhancers	Fetal Muscle Trunk	muscle
6	chr10:5650600-5653200	Enhancers	Liver	Liver
7	chr10:5650600-5653200	Enhancers	Fetal Intestine Small	intestine
8	chr10:5650800-5655600	Weak transcription	Adipose Nuclei	Adipose
9	chr10:5651200-5653400	Enhancers	Colonic Mucosa	Colon
10	chr10:5651200-5653400	Enhancers	Psoas Muscle	Psoas
11	chr10:5651200-5653600	Enhancers	Pancreas	Pancrea
12	chr10:5651200-5656000	Weak transcription	Fetal Lung	lung
13	chr10:5651400-5653000	Enhancers	Osteobl	bone
14	chr10:5651600-5653000	Enhancers	Gastric	stomach
15	chr10:5651600-5653200	Enhancers	HSMM	muscle
16	chr10:5651600-5653400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:5651600-5654200	Enhancers	HSMMtube	muscle
18	chr10:5651800-5653200	Enhancers	Stomach Smooth Muscle	stomach
19	chr10:5651800-5654400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:5651800-5654600	Enhancers	Stomach Mucosa	stomach
21	chr10:5651800-5655600	Weak transcription	Fetal Thymus	thymus
22	chr10:5651800-5655600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:5651800-5665000	Weak transcription	Spleen	Spleen
24	chr10:5652000-5653000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:5652000-5653000	Flanking Active TSS	HepG2	liver
26	chr10:5652000-5653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:5652000-5654600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:5652200-5655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:5652200-5655600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:5652200-5655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:5652200-5655800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:5652200-5655800	Weak transcription	Ovary	ovary
33	chr10:5652200-5660800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:5652200-5660800	Weak transcription	Right Ventricle	heart
35	chr10:5652400-5653000	Weak transcription	Esophagus	oesophagus
36	chr10:5652400-5653000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr10:5652400-5654000	Enhancers	Fetal Intestine Large	intestine
38	chr10:5652400-5654600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr10:5652400-5654800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:5652400-5655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:5652400-5655600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:5652400-5655600	Weak transcription	Placenta	Placenta
43	chr10:5652400-5655800	Weak transcription	Aorta	Aorta
44	chr10:5652600-5653000	Enhancers	Fetal Heart	heart
45	chr10:5652600-5653400	Flanking Active TSS	Hela-S3	cervix
46	chr10:5652600-5654600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr10:5652800-5653000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:5652800-5653000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:5652800-5653000	Enhancers	Brain Substantia Nigra	brain
50	chr10:5652800-5653000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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