Variant report

Variant	rs559240101
Chromosome Location	chr10:6130627-6130628
allele	C/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	chr10:6130517-6131064	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr10:6130539-6131013	MCF-7	breast:	n/a	n/a
3	STAT5A	chr10:6130572-6131074	K562	blood:	n/a	n/a
4	CTCF	chr10:6130613-6131060	Gliobla	brain:	n/a	n/a
5	CTCF	chr10:6130288-6132114	SK-N-SH	brain:	n/a	chr10:6131172-6131185 chr10:6131800-6131813 chr10:6131176-6131185 chr10:6131066-6131079
6	ZBTB33	chr10:6130615-6130983	A549	lung:	n/a	n/a
7	YY1	chr10:6130535-6131394	GM12878	blood:	n/a	chr10:6131052-6131061 chr10:6131360-6131374 chr10:6131365-6131374 chr10:6130865-6130874 chr10:6131171-6131185 chr10:6131168-6131179 chr10:6131362-6131371 chr10:6131015-6131024
8	CHD2	chr10:6130617-6130967	H1-hESC	embryonic stem cell:	n/a	n/a
9	EBF1	chr10:6130625-6130936	GM12878	blood:	n/a	n/a
10	MAX	chr10:6130514-6131151	A549	lung:	n/a	n/a
11	MAX	chr10:6130567-6132097	K562	blood:	n/a	n/a
12	RCOR1	chr10:6130611-6131148	GM12878	blood:	n/a	n/a
13	CTCF	chr10:6130325-6131122	MCF-7	breast:	n/a	chr10:6131066-6131079
14	TEAD4	chr10:6130549-6131064	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr10:6129833-6132689	A549	lung:	n/a	chr10:6131172-6131185 chr10:6132605-6132618 chr10:6131800-6131813 chr10:6131176-6131185 chr10:6131066-6131079
16	TAF1	chr10:6130561-6131272	ECC-1	luminal epithelium:	n/a	n/a
17	TCF12	chr10:6130494-6131148	A549	lung:	n/a	n/a
18	BCLAF1	chr10:6130507-6131438	GM12878	blood:	n/a	chr10:6131015-6131028 chr10:6131315-6131328 chr10:6131361-6131374 chr10:6131067-6131080 chr10:6130719-6130728 chr10:6131364-6131373 chr10:6131265-6131274 chr10:6131358-6131371
19	GATA3	chr10:6130579-6131012	T-47D	breast:	n/a	n/a
20	IRF1	chr10:6130616-6131147	K562	blood:	n/a	n/a
21	TEAD4	chr10:6130555-6131132	A549	lung:	n/a	n/a
22	MTA3	chr10:6130360-6130971	GM12878	blood:	n/a	n/a
23	CTCF	chr10:6130533-6131120	ECC-1	luminal epithelium:	n/a	chr10:6131066-6131079
24	TAF1	chr10:6130592-6131443	ECC-1	luminal epithelium:	n/a	n/a
25	SPI1	chr10:6130595-6130912	HL-60	blood:	n/a	n/a
26	MYC	chr10:6130618-6131008	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr10:6130599-6131048	GM12878	blood:	n/a	n/a
28	CTCF	chr10:6130625-6131086	GM19238	blood:	n/a	chr10:6131066-6131079
29	HCFC1	chr10:6130608-6131414	K562	blood:	n/a	n/a
30	RCOR1	chr10:6130587-6131046	K562	blood:	n/a	n/a
31	EP300	chr10:6130606-6131416	HepG2	liver:	n/a	chr10:6131117-6131126 chr10:6131053-6131062 chr10:6131170-6131179
32	RELA	chr10:6130555-6131240	GM10847	blood:	n/a	n/a
33	SIN3A	chr10:6130562-6132083	H1-hESC	embryonic stem cell:	n/a	chr10:6131107-6131118 chr10:6131319-6131328
34	YY1	chr10:6130588-6131442	HepG2	liver:	n/a	chr10:6131052-6131061 chr10:6131360-6131374 chr10:6131365-6131374 chr10:6130865-6130874 chr10:6131171-6131185 chr10:6131168-6131179 chr10:6131362-6131371 chr10:6131015-6131024
35	ATF3	chr10:6130513-6131099	A549	lung:	n/a	chr10:6131013-6131022
36	MYC	chr10:6130589-6131621	K562	blood:	n/a	n/a
37	BRCA1	chr10:6130625-6131003	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr10:6130562-6130974	K562	blood:	n/a	n/a
39	CTCF	chr10:6130184-6131035	HCT-116	colon:	n/a	n/a
40	ATF3	chr10:6130573-6131136	GM12878	blood:	n/a	chr10:6131013-6131022
41	TEAD4	chr10:6130502-6131078	HepG2	liver:	n/a	n/a
42	TEAD4	chr10:6130530-6131127	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr10:6130594-6131093	Spleen_OC	spleen:	n/a	chr10:6131066-6131079
44	SRF	chr10:6130574-6131086	ECC-1	luminal epithelium:	n/a	n/a
45	RAD21	chr10:6130469-6131179	HCT-116	colon:	n/a	chr10:6130866-6130878 chr10:6131066-6131080
46	RAD21	chr10:6130552-6131050	MCF-7	breast:	n/a	chr10:6130866-6130878
47	TEAD4	chr10:6130395-6131154	SK-N-SH	brain:	n/a	n/a
48	PML	chr10:6130543-6131093	K562	blood:	n/a	n/a
49	NRF1	chr10:6130563-6131524	SK-N-SH	brain:	n/a	chr10:6130951-6130962 chr10:6130968-6130979 chr10:6130927-6130938 chr10:6131358-6131367
50	POU2F2	chr10:6130613-6131178	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:6130578-6130628	Jurkat	blood:	n/a
2	chr10:6130580-6130630	HEK293	kidney:	embryo
3	chr10:6130580-6130630	T-47D	breast:	n/a
4	chr10:6130580-6130630	CMK	blood:	n/a
5	chr10:6130580-6130630	BJ	skin:	n/a
6	chr10:6130580-6130630	GM06990	blood:	n/a
7	chr10:6130580-6130630	SAEC	small airway:	n/a
8	chr10:6130578-6130628	PANC-1	pancreas:	n/a
9	chr10:6130578-6130628	Caco-2	colon:	n/a
10	chr10:6130580-6130630	HRPEpiC	eye:	n/a
11	chr10:6130578-6130628	HCPEpiC	choroid plexus:	n/a
12	chr10:6130578-6130628	A549	lung:	n/a
13	chr10:6130578-6130628	GM12878	blood:	n/a
14	chr10:6130580-6130630	PrEC	prostate:	n/a
15	chr10:6130580-6130630	GM12891	blood:	n/a
16	chr10:6130580-6130630	MCF-7	breast:	n/a
17	chr10:6130580-6130630	HEEpiC	esophagus:	n/a
18	chr10:6130578-6130628	HRPEpiC	eye:	n/a
19	chr10:6130580-6130630	PFSK-1	brain:	n/a
20	chr10:6130578-6130628	NHBE	bronchial:	n/a
21	chr10:6130580-6130630	SK-N-MC	brain:	n/a
22	chr10:6130580-6130630	HCPEpiC	choroid plexus:	n/a
23	chr10:6130578-6130628	SK-N-SH_RA	brain:	n/a
24	chr10:6130578-6130628	IMR90	lung:	fetal
25	chr10:6130580-6130630	SK-N-SH	brain:	n/a
26	chr10:6130580-6130630	SKMC	muscle:	n/a
27	chr10:6130578-6130628	SAEC	small airway:	n/a
28	chr10:6130580-6130630	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:6130578-6130628	AoSMC	blood vessel:	n/a
30	chr10:6130578-6130628	NT2-D1	testis:	n/a
31	chr10:6130580-6130630	HepG2	liver:	n/a
32	chr10:6130580-6130630	Hepatocyte	liver:	n/a
33	chr10:6130578-6130628	GM06990	blood:	n/a
34	chr10:6130578-6130628	K562	blood:	n/a
35	chr10:6130580-6130630	NB4	blood:	n/a
36	chr10:6130578-6130628	HCM	heart:	n/a
37	chr10:6130580-6130630	HAEpiC	amniotic membrane:	n/a
38	chr10:6130580-6130630	U87	brain:	n/a
39	chr10:6130578-6130628	H1-hESC	embryonic stem cell:	embryo
40	chr10:6130578-6130628	T-47D	breast:	n/a
41	chr10:6130578-6130628	AG04449	skin:	fetal
42	chr10:6130578-6130628	SKMC	muscle:	n/a
43	chr10:6130578-6130628	HNPCEpiC	eye:	n/a
44	chr10:6130580-6130630	AG04450	lung:	fetal
45	chr10:6130578-6130628	HRE	kidney:	n/a
46	chr10:6130580-6130630	GM19239	blood:	n/a
47	chr10:6130578-6130628	HepG2	liver:	n/a
48	chr10:6130580-6130630	IMR90	lung:	fetal
49	chr10:6130578-6130628	GM12892	blood:	n/a
50	chr10:6130578-6130628	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6101613..6103309-chr10:6128330..6130665,2	MCF-7	breast:
2	chr10:6128377..6132115-chr10:6241834..6247197,6	MCF-7	breast:
3	chr10:6129764..6131854-chr10:6149478..6152087,2	MCF-7	breast:
4	chr10:6130329..6130942-chr17:58224606..58225403,2	MCF-7	breast:
5	chr10:6018064..6019912-chr10:6129955..6132156,2	K562	blood:
6	chr10:5989843..5990785-chr10:6130083..6130917,2	K562	blood:
7	chr10:6130483..6131187-chr17:58513324..58513942,2	MCF-7	breast:
8	chr10:6129825..6133257-chr10:6241985..6247329,10	MCF-7	breast:
9	chr10:5986795..5989162-chr10:6128663..6130950,2	K562	blood:
10	chr10:6116771..6117539-chr10:6130301..6130858,2	MCF-7	breast:
11	chr10:6018278..6019533-chr10:6130531..6131243,3	MCF-7	breast:
12	chr10:6130591..6133050-chr10:6185385..6187497,2	MCF-7	breast:
13	chr10:6018064..6021783-chr10:6129304..6132316,4	K562	blood:
14	chr10:6128980..6130903-chr10:6206068..6209123,3	K562	blood:
15	chr10:6083497..6085137-chr10:6128481..6130673,2	MCF-7	breast:
16	chr10:6019647..6020148-chr10:6130484..6131213,2	MCF-7	breast:
17	chr10:6129204..6131748-chr10:6244207..6246414,2	K562	blood:
18	chr10:6130589..6132639-chr10:6184439..6189476,5	K562	blood:
19	chr10:6130184..6130942-chr10:6245055..6246031,2	MCF-7	breast:

Variant related genes	Relation type
RBM17	TF binding region
RBM17	CpG island
ENSG00000213228	Chromatin interaction
ENSG00000134453	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000232807	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3410151	chr10:6129771-6132319	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6124800-6131000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:6126000-6131000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:6126200-6131000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:6128200-6131000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:6128600-6131000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:6128800-6131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:6128800-6131000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:6129000-6130800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:6129000-6131000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:6129000-6131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:6129000-6131000	Weak transcription	Ovary	ovary
12	chr10:6129000-6131000	Weak transcription	Right Ventricle	heart
13	chr10:6129000-6131200	Weak transcription	Placenta	Placenta
14	chr10:6129000-6131400	Weak transcription	Fetal Heart	heart
15	chr10:6129200-6131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:6130200-6131000	Enhancers	Primary T cells from cord blood	blood
17	chr10:6130200-6131000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr10:6130200-6132000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:6130400-6130800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:6130400-6130800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr10:6130400-6130800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr10:6130400-6130800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr10:6130400-6130800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr10:6130400-6130800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:6130400-6130800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:6130400-6130800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:6130400-6130800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr10:6130400-6130800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr10:6130400-6130800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr10:6130400-6130800	Bivalent Enhancer	Fetal Brain Male	brain
31	chr10:6130400-6130800	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr10:6130400-6130800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr10:6130400-6130800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr10:6130400-6130800	Flanking Active TSS	Dnd41	blood
35	chr10:6130400-6130800	Flanking Active TSS	HMEC	breast
36	chr10:6130400-6130800	Flanking Active TSS	HUVEC	blood vessel
37	chr10:6130400-6130800	Flanking Active TSS	Osteobl	bone
38	chr10:6130400-6131000	Enhancers	Primary B cells from peripheral blood	blood
39	chr10:6130400-6131000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:6130400-6131000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr10:6130400-6131000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr10:6130400-6131000	Enhancers	Fetal Thymus	thymus
43	chr10:6130400-6131000	Enhancers	Small Intestine	intestine
44	chr10:6130400-6131000	Enhancers	Stomach Mucosa	stomach
45	chr10:6130400-6131200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr10:6130400-6131200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:6130400-6131200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:6130400-6131400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr10:6130400-6131600	Active TSS	Brain Anterior Caudate	brain
50	chr10:6130400-6131600	Active TSS	Fetal Muscle Trunk	muscle

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