Variant report

Variant	rs529591200
Chromosome Location	chr6:149068391-149068392
allele	-/GA
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	TFAP2A	chr6:149067084-149069514	Hela-S3	cervix:	n/a	chr6:149069048-149069056 chr6:149069442-149069453 chr6:149069442-149069453 chr6:149069048-149069056 chr6:149069243-149069251 chr6:149069442-149069453 chr6:149069048-149069056 chr6:149069442-149069453 chr6:149069243-149069251 chr6:149069242-149069253 chr6:149069443-149069451 chr6:149069243-149069251
2	FOXP2	chr6:149067797-149068442	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:149067818-149068456	GM12891	blood:	n/a	n/a
4	RAD21	chr6:149067512-149069188	IMR90	lung:	n/a	chr6:149067977-149067987 chr6:149068450-149068462 chr6:149067833-149067842
5	CTCF	chr6:149068325-149069136	GM12878	blood:	n/a	chr6:149068438-149068451
6	MYC	chr6:149067756-149068593	MCF10A-Er-Src	breast:	n/a	chr6:149068437-149068447
7	MAZ	chr6:149067408-149069284	Hela-S3	cervix:	n/a	chr6:149069010-149069020 chr6:149068437-149068447
8	ELF1	chr6:149067362-149069363	GM12878	blood:	n/a	chr6:149069033-149069042 chr6:149068379-149068388
9	POLR2A	chr6:149067802-149068780	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr6:149067862-149068408	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:149067477-149068413	HEK293	kidney:	n/a	n/a
12	ZBTB7A	chr6:149068365-149069226	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr6:149067339-149068737	H1-hESC	embryonic stem cell:	n/a	n/a
14	RFX5	chr6:149067562-149068580	Hela-S3	cervix:	n/a	chr6:149068416-149068425
15	POLR2A	chr6:149067923-149068422	GM12892	blood:	n/a	n/a
16	CTBP2	chr6:149067493-149070040	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF7L2	chr6:149067505-149069242	HCT-116	colon:	n/a	n/a
18	POLR2A	chr6:149067708-149068531	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:149067917-149068541	MCF-7	breast:	n/a	n/a
20	POLR2A	chr6:149068351-149069467	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:149067231-149069320	MCF10A-Er-Src	breast:	n/a	n/a
22	ZBTB7A	chr6:149068174-149068400	K562	blood:	n/a	n/a
23	POLR2A	chr6:149067924-149068419	MCF-7	breast:	n/a	n/a
24	MAX	chr6:149067872-149068927	ECC-1	luminal epithelium:	n/a	chr6:149068437-149068447
25	MAX	chr6:149067820-149069368	MCF-7	breast:	n/a	chr6:149069010-149069020 chr6:149068437-149068447
26	POLR2A	chr6:149067833-149070042	GM12891	blood:	n/a	n/a
27	CHD2	chr6:149067388-149069239	Hela-S3	cervix:	n/a	chr6:149069167-149069177 chr6:149068434-149068444 chr6:149067964-149067974
28	SIN3A	chr6:149067405-149070138	H1-hESC	embryonic stem cell:	n/a	chr6:149068483-149068494 chr6:149069959-149069972 chr6:149068228-149068237 chr6:149069839-149069852 chr6:149067620-149067633 chr6:149069340-149069353
29	POLR2A	chr6:149067926-149068571	MCF-7	breast:	n/a	n/a
30	ZNF263	chr6:149067359-149068444	HEK293-T-REx	kidney:	n/a	chr6:149068112-149068133
31	YY1	chr6:149068192-149068556	GM12878	blood:	n/a	chr6:149068247-149068258 chr6:149068376-149068385 chr6:149068454-149068468 chr6:149068379-149068388 chr6:149068436-149068445 chr6:149068380-149068391 chr6:149068376-149068390 chr6:149068382-149068391
32	TCF12	chr6:149067800-149068670	ECC-1	luminal epithelium:	n/a	n/a
33	TFAP2C	chr6:149067055-149069498	Hela-S3	cervix:	n/a	chr6:149069045-149069060
34	EBF1	chr6:149068374-149068805	GM12878	blood:	n/a	chr6:149068610-149068621
35	MYC	chr6:149068267-149068699	MCF-7	breast:	n/a	chr6:149068437-149068447
36	MAZ	chr6:149067600-149068466	GM12878	blood:	n/a	chr6:149068437-149068447
37	MAX	chr6:149067164-149069378	Hela-S3	cervix:	n/a	chr6:149069010-149069020 chr6:149068437-149068447
38	NFIC	chr6:149068297-149068793	ECC-1	luminal epithelium:	n/a	chr6:149068464-149068492
39	POLR2A	chr6:149067776-149068417	U87	brain:	n/a	n/a
40	MAZ	chr6:149067138-149070205	IMR90	lung:	n/a	chr6:149069010-149069020 chr6:149068437-149068447
41	CTCF	chr6:149068260-149068410	GM12875	blood:	n/a	n/a
42	POLR2A	chr6:149067986-149068407	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr6:149067707-149068533	GM12878	blood:	n/a	chr6:149068434-149068444 chr6:149067964-149067974
44	RAD21	chr6:149067419-149069220	H1-hESC	embryonic stem cell:	n/a	chr6:149067977-149067987 chr6:149068450-149068462 chr6:149067833-149067842
45	MAX	chr6:149068342-149069161	H1-hESC	embryonic stem cell:	n/a	chr6:149069010-149069020 chr6:149068437-149068447
46	POLR2A	chr6:149067711-149068457	ProgFib	skin:	n/a	n/a
47	POLR2A	chr6:149067606-149068401	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr6:149067942-149068428	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:149067979-149068408	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:149068387-149068437	HNPCEpiC	eye:	n/a
2	chr6:149068387-149068437	ECC-1	luminal epithelium:	n/a
3	chr6:149068387-149068437	GM12891	blood:	n/a
4	chr6:149068384-149068434	HCM	heart:	n/a
5	chr6:149068384-149068434	AG04450	lung:	fetal
6	chr6:149068387-149068437	HRPEpiC	eye:	n/a
7	chr6:149068387-149068437	NHDF-neo	bronchial:	n/a
8	chr6:149068384-149068434	AG09309	skin:	n/a
9	chr6:149068387-149068437	HUVEC	blood vessel:	n/a
10	chr6:149068387-149068437	NHBE	bronchial:	n/a
11	chr6:149068387-149068437	NT2-D1	testis:	n/a
12	chr6:149068384-149068434	BJ	skin:	n/a
13	chr6:149068384-149068434	U87	brain:	n/a
14	chr6:149068384-149068434	HCT-116	colon:	n/a
15	chr6:149068387-149068437	PANC-1	pancreas:	n/a
16	chr6:149068387-149068437	AG09319	gingival:	n/a
17	chr6:149068387-149068437	ProgFib	skin:	n/a
18	chr6:149068387-149068437	AG04450	lung:	fetal
19	chr6:149068384-149068434	CMK	blood:	n/a
20	chr6:149068384-149068434	IMR90	lung:	fetal
21	chr6:149068384-149068434	HUVEC	blood vessel:	n/a
22	chr6:149068387-149068437	HL-60	blood:	n/a
23	chr6:149068384-149068434	ECC-1	luminal epithelium:	n/a
24	chr6:149068387-149068437	GM12878	blood:	n/a
25	chr6:149068384-149068434	BE2_C	brain:	n/a
26	chr6:149068387-149068437	AG04449	skin:	fetal
27	chr6:149068384-149068434	SAEC	small airway:	n/a
28	chr6:149068384-149068434	GM12878	blood:	n/a
29	chr6:149068384-149068434	HEEpiC	esophagus:	n/a
30	chr6:149068387-149068437	RPTEC	kidney:	n/a
31	chr6:149068387-149068437	HIPEpiC	eye:	n/a
32	chr6:149068387-149068437	SKMC	muscle:	n/a
33	chr6:149068387-149068437	Caco-2	colon:	n/a
34	chr6:149068384-149068434	HAEpiC	amniotic membrane:	n/a
35	chr6:149068384-149068434	GM12891	blood:	n/a
36	chr6:149068384-149068434	ProgFib	skin:	n/a
37	chr6:149068387-149068437	HMEC	breast:	n/a
38	chr6:149068384-149068434	ovcar-3	ovarian:	n/a
39	chr6:149068384-149068434	SK-N-SH_RA	brain:	n/a
40	chr6:149068387-149068437	HEK293	kidney:	embryo
41	chr6:149068387-149068437	SAEC	small airway:	n/a
42	chr6:149068384-149068434	T-47D	breast:	n/a
43	chr6:149068384-149068434	LNCaP	prostate:	n/a
44	chr6:149068384-149068434	HRCEpiC	kidney:	n/a
45	chr6:149068387-149068437	HCT-116	colon:	n/a
46	chr6:149068387-149068437	SK-N-MC	brain:	n/a
47	chr6:149068384-149068434	SKMC	muscle:	n/a
48	chr6:149068384-149068434	HRE	kidney:	n/a
49	chr6:149068384-149068434	NT2-D1	testis:	n/a
50	chr6:149068387-149068437	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149067550..149069400-chr6:149273636..149276626,2	MCF-7	breast:

Variant related genes	Relation type
UST	TF binding region
UST	CpG island
ENSG00000111962	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3407924	chr6:149067684-149070232	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149067000-149068600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:149067000-149069600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:149067000-149069600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:149067000-149069800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr6:149067000-149070200	Active TSS	NHDF-Ad	bronchial
6	chr6:149067000-149070400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:149067200-149068400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:149067200-149068600	Active TSS	Right Ventricle	heart
9	chr6:149067200-149068800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr6:149067200-149068800	Active TSS	Placenta Amnion	Placenta Amnion
11	chr6:149067200-149069200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:149067200-149069200	Bivalent/Poised TSS	A549	lung
13	chr6:149067200-149069600	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr6:149067200-149069600	Active TSS	Left Ventricle	heart
15	chr6:149067200-149069800	Active TSS	Aorta	Aorta
16	chr6:149067200-149070000	Active TSS	Fetal Kidney	kidney
17	chr6:149067200-149070000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:149067200-149070000	Active TSS	Right Atrium	heart
19	chr6:149067200-149070200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr6:149067200-149070200	Active TSS	HSMMtube	muscle
21	chr6:149067200-149070600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:149067400-149069000	Active TSS	Psoas Muscle	Psoas
23	chr6:149067400-149069200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr6:149067400-149069400	Active TSS	Primary T cells from cord blood	blood
25	chr6:149067400-149069600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:149067400-149070000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:149067400-149070000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:149067400-149070000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:149067400-149070000	Active TSS	Brain Substantia Nigra	brain
30	chr6:149067400-149070000	Active TSS	Ovary	ovary
31	chr6:149067400-149070200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:149067400-149070200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:149067400-149070200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:149067400-149070600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:149067600-149068400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:149067600-149068400	Active TSS	Fetal Muscle Leg	muscle
37	chr6:149067600-149068600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:149067600-149068600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:149067600-149068600	Active TSS	Lung	lung
40	chr6:149067600-149068600	Active TSS	Pancreas	Pancrea
41	chr6:149067600-149068600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:149067600-149068800	Active TSS	Gastric	stomach
43	chr6:149067600-149068800	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr6:149067600-149068800	Active TSS	K562	blood
45	chr6:149067600-149069000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:149067600-149069000	Active TSS	Stomach Smooth Muscle	stomach
47	chr6:149067600-149069000	Active TSS	Thymus	Thymus
48	chr6:149067600-149069000	Active TSS	GM12878-XiMat	blood
49	chr6:149067600-149069200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:149067600-149069200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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