Variant report

Variant	rs541940120
Chromosome Location	chr10:4289506-4289507
allele	G/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	TEAD4	chr10:4288866-4289715	SK-N-SH	brain:	n/a	n/a
2	JUND	chr10:4288742-4289703	SK-N-SH	brain:	n/a	chr10:4289311-4289322
3	JUND	chr10:4288664-4290065	SK-N-SH	brain:	n/a	chr10:4289311-4289322
4	POLR2A	chr10:4288772-4290113	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr10:4288756-4289751	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr10:4289307-4290005	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr10:4289182-4289539	MCF10A-Er-Src	breast:	n/a	n/a
8	TAF1	chr10:4289082-4289657	SK-N-SH	brain:	n/a	n/a
9	FOXM1	chr10:4288703-4290073	SK-N-SH	brain:	n/a	n/a
10	EP300	chr10:4288679-4289994	SK-N-SH	brain:	n/a	chr10:4289856-4289864 chr10:4288827-4288841 chr10:4289446-4289460
11	PBX3	chr10:4288865-4290034	SK-N-SH	brain:	n/a	n/a
12	YY1	chr10:4288864-4289806	SK-N-SH	brain:	n/a	chr10:4289484-4289493 chr10:4289150-4289159
13	EP300	chr10:4288964-4289611	SK-N-SH_RA	brain:	n/a	chr10:4289446-4289460
14	GATA3	chr10:4288736-4290061	SK-N-SH	brain:	n/a	chr10:4289448-4289458
15	POLR2A	chr10:4289063-4289842	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr10:4288892-4289616	IMR90	lung:	n/a	n/a
17	EP300	chr10:4288839-4289798	SK-N-SH	brain:	n/a	chr10:4289446-4289460
18	TCF12	chr10:4288680-4290137	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr10:4287970-4290180	IMR90	lung:	n/a	n/a
20	NFIC	chr10:4288737-4290060	SK-N-SH	brain:	n/a	n/a
21	MEF2A	chr10:4288855-4289998	SK-N-SH	brain:	n/a	chr10:4288922-4288931 chr10:4289011-4289032 chr10:4288921-4288932 chr10:4288920-4288931 chr10:4289013-4289027 chr10:4289015-4289026 chr10:4289016-4289025 chr10:4289014-4289025
22	FOS	chr10:4288919-4289875	HUVEC	blood vessel:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
23	FOXM1	chr10:4288893-4289722	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr10:4288880-4289571	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr10:4288834-4289974	U87	brain:	n/a	n/a
26	MAX	chr10:4288874-4289779	SK-N-SH	brain:	n/a	chr10:4289158-4289167
27	MAX	chr10:4288867-4289750	SK-N-SH	brain:	n/a	chr10:4289158-4289167
28	POLR2A	chr10:4289266-4289565	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr10:4289328-4289549	Hela-S3	cervix:	n/a	n/a
30	GATA3	chr10:4288589-4290098	SK-N-SH	brain:	n/a	chr10:4289448-4289458
31	PBX3	chr10:4288783-4290065	SK-N-SH	brain:	n/a	n/a
32	CEBPB	chr10:4288948-4289680	IMR90	lung:	n/a	n/a
33	FOS	chr10:4289066-4289549	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
34	RAD21	chr10:4288995-4289659	SK-N-SH_RA	brain:	n/a	n/a
35	TCF12	chr10:4288743-4290017	SK-N-SH	brain:	n/a	n/a
36	STAT3	chr10:4289173-4289615	MCF10A-Er-Src	breast:	n/a	chr10:4289451-4289462
37	TAF1	chr10:4289336-4289678	SK-N-SH	brain:	n/a	n/a
38	TEAD4	chr10:4288817-4289769	SK-N-SH	brain:	n/a	n/a
39	JUND	chr10:4288765-4289973	SK-N-SH	brain:	n/a	chr10:4289311-4289322
40	MAFK	chr10:4288853-4289805	IMR90	lung:	n/a	n/a
41	POLR2A	chr10:4289483-4289524	ProgFib	skin:	n/a	n/a
42	POLR2A	chr10:4288916-4289683	PFSK-1	brain:	n/a	n/a
43	EP300	chr10:4288973-4289853	SK-N-SH_RA	brain:	n/a	chr10:4289446-4289460
44	RXRA	chr10:4288821-4289698	SK-N-SH	brain:	n/a	n/a
45	GATA2	chr10:4288908-4289508	HUVEC	blood vessel:	n/a	chr10:4289448-4289458
46	RAD21	chr10:4288975-4289590	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
LINC00702	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799113	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1800792	chr10:4259123-4332824	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1820112	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1822419	chr10:4259123-4332824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1839293	chr10:4259123-4332824	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1841782	chr10:4259123-4332824	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1044535	chr10:4271872-4306421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1051538	chr10:4274395-4291004	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1053322	chr10:4279301-4306798	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1052378	chr10:4286880-4307024	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1043787	chr10:4286880-4307322	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv1036103	chr10:4286880-4311792	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2757363	chr10:4286880-4323493	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2759728	chr10:4286880-4323493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3317084	chr10:4288052-4293650	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1800898	chr10:4288645-4291584	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv1821878	chr10:4288645-4291584	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv1839878	chr10:4288645-4291584	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv3346302	chr10:4288902-4292800	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv3318195	chr10:4288977-4292925	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv3341959	chr10:4289352-4292700	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
22	nsv549858	chr10:4289489-4291584	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4276000-4292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4285200-4291800	Weak transcription	Psoas Muscle	Psoas
3	chr10:4285600-4296200	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:4286000-4289600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr10:4286000-4290200	Enhancers	HMEC	breast
6	chr10:4286000-4292400	Weak transcription	Right Ventricle	heart
7	chr10:4286000-4294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:4286800-4296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:4287200-4289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:4288000-4289800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:4288000-4289800	Enhancers	HUVEC	blood vessel
12	chr10:4288000-4290000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:4288000-4290000	Enhancers	Hela-S3	cervix
14	chr10:4288000-4290200	Enhancers	NHEK	skin
15	chr10:4288200-4290000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:4288400-4290000	Enhancers	NHLF	lung
17	chr10:4288400-4291000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:4288600-4289800	Enhancers	Colon Smooth Muscle	Colon
19	chr10:4288600-4289800	Enhancers	Fetal Heart	heart
20	chr10:4288600-4290000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:4288600-4290000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:4288600-4290600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:4288600-4291800	Weak transcription	Aorta	Aorta
24	chr10:4288800-4290000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:4288800-4290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:4289000-4289600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:4289000-4289800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr10:4289000-4289800	Enhancers	Rectal Smooth Muscle	rectum
29	chr10:4289000-4293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:4289200-4289600	Enhancers	Ovary	ovary
31	chr10:4289200-4289800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr10:4289400-4289600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:4289400-4289600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:4289400-4289600	Enhancers	Right Atrium	heart
35	chr10:4289400-4289600	Flanking Active TSS	HSMMtube	muscle
36	chr10:4289400-4289800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:4289400-4289800	Enhancers	Adipose Nuclei	Adipose
38	chr10:4289400-4289800	Flanking Active TSS	HSMM	muscle
39	chr10:4289400-4289800	Flanking Active TSS	NH-A	brain
40	chr10:4289400-4290000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:4289400-4290000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:4289400-4290000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr10:4289400-4290000	Flanking Active TSS	Osteobl	bone
44	chr10:4289400-4290800	Enhancers	Fetal Thymus	thymus
45	chr10:4289400-4301400	Weak transcription	Stomach Smooth Muscle	stomach

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