Variant report

Variant	rs565350296
Chromosome Location	chr6:44094788-44094789
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	UBTF	chr6:44094450-44094897	K562	blood:	n/a	n/a
2	ATF2	chr6:44094334-44094861	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:44094355-44094807	GM12878	blood:	n/a	n/a
4	MYC	chr6:44094496-44095351	K562	blood:	n/a	chr6:44095138-44095147
5	POLR2A	chr6:44094544-44095583	GM18951	blood:	n/a	n/a
6	MAX	chr6:44094451-44095320	ECC-1	luminal epithelium:	n/a	chr6:44095138-44095147
7	IRF1	chr6:44093998-44095304	K562	blood:	n/a	chr6:44095230-44095244 chr6:44094564-44094578
8	POLR2A	chr6:44094543-44095585	GM15510	blood:	n/a	n/a
9	ETS1	chr6:44094501-44094859	K562	blood:	n/a	n/a
10	WRNIP1	chr6:44093649-44094809	GM12878	blood:	n/a	n/a
11	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
12	POLR2A	chr6:44094459-44094896	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:44094453-44094889	SK-N-SH	brain:	n/a	n/a
14	TBP	chr6:44094311-44095278	K562	blood:	n/a	n/a
15	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
16	PML	chr6:44094339-44095387	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:44093915-44095324	GM12878	blood:	n/a	n/a
18	RUNX3	chr6:44094301-44094872	GM12878	blood:	n/a	n/a
19	BACH1	chr6:44094684-44095234	H1-hESC	embryonic stem cell:	n/a	n/a
20	CBX3	chr6:44094220-44094912	K562	blood:	n/a	n/a
21	POLR2A	chr6:44094353-44095589	PFSK-1	brain:	n/a	n/a
22	EP300	chr6:44094442-44095241	K562	blood:	n/a	chr6:44095080-44095096
23	NR2F2	chr6:44094051-44094871	K562	blood:	n/a	n/a
24	POLR2A	chr6:44093405-44095328	MCF10A-Er-Src	breast:	n/a	n/a
25	HEY1	chr6:44093972-44094843	HepG2	liver:	n/a	n/a
26	PML	chr6:44093975-44094843	K562	blood:	n/a	n/a
27	POLR2A	chr6:44094107-44094894	K562	blood:	n/a	n/a
28	POLR2A	chr6:44094458-44095651	HUVEC	blood vessel:	n/a	n/a
29	MXI1	chr6:44093987-44095259	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:44094534-44094888	GM12878	blood:	n/a	n/a
31	RCOR1	chr6:44094019-44095244	K562	blood:	n/a	n/a
32	POLR2A	chr6:44094500-44095340	HepG2	liver:	n/a	n/a
33	STAT5A	chr6:44094340-44094836	GM12878	blood:	n/a	chr6:44094698-44094710
34	POLR2A	chr6:44094423-44094892	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:44094386-44095344	K562	blood:	n/a	chr6:44095138-44095147
36	POLR2A	chr6:44093605-44095294	HepG2	liver:	n/a	n/a
37	MAX	chr6:44094604-44095332	HepG2	liver:	n/a	chr6:44095138-44095147
38	TAF1	chr6:44094581-44095745	HepG2	liver:	n/a	n/a
39	NFATC1	chr6:44094170-44094841	GM12878	blood:	n/a	n/a
40	STAT5A	chr6:44094150-44094814	GM12878	blood:	n/a	chr6:44094698-44094710
41	RELA	chr6:44094174-44095286	GM19193	blood:	n/a	n/a
42	MBD4	chr6:44093963-44094855	HepG2	liver:	n/a	n/a
43	POLR2A	chr6:44094508-44095566	K562	blood:	n/a	n/a
44	HEY1	chr6:44094510-44094890	K562	blood:	n/a	n/a
45	POLR2A	chr6:44094410-44095619	K562	blood:	n/a	n/a
46	JUND	chr6:44094431-44095240	K562	blood:	n/a	chr6:44095064-44095073 chr6:44095230-44095239 chr6:44094982-44094993
47	MAX	chr6:44094469-44095330	Hela-S3	cervix:	n/a	chr6:44095138-44095147
48	TAF1	chr6:44094553-44094795	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3A	chr6:44094343-44096576	H1-hESC	embryonic stem cell:	n/a	chr6:44095951-44095960 chr6:44095972-44095985
50	MTA3	chr6:44094212-44095237	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
2	chr1:171750621..171751192-chr6:44094734..44095532,2	Hela-S3	cervix:
3	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
4	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
5	chr6:44055370..44058215-chr6:44094460..44096529,3	K562	blood:
6	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
7	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
8	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
9	chr6:44094044..44095024-chr7:99214204..99214912,2	Hela-S3	cervix:
10	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
11	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
12	chr11:62608617..62609721-chr6:44094675..44095678,3	NB4	blood:
13	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
14	chr6:43596367..43598855-chr6:44092530..44095404,4	K562	blood:
15	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
16	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000146232	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000183239	Chromatin interaction
ENSG00000010165	Chromatin interaction
ENSG00000197037	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000112715	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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3325720	chr6:44094199-44096747	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	esv3347288	chr6:44094599-44097147	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	16 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	chr6:44093200-44096200	Active TSS	Lung	lung
2	chr6:44093400-44096200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr6:44093600-44094800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr6:44093600-44094800	Flanking Active TSS	Fetal Thymus	thymus
5	chr6:44093800-44094800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr6:44093800-44094800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:44093800-44095800	Active TSS	Fetal Muscle Trunk	muscle
8	chr6:44093800-44096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:44093800-44096400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:44093800-44096400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:44094000-44094800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:44094000-44094800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr6:44094000-44094800	Active TSS	Right Atrium	heart
14	chr6:44094000-44095200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:44094000-44096000	Active TSS	Ovary	ovary
16	chr6:44094000-44096200	Active TSS	Esophagus	oesophagus
17	chr6:44094000-44096200	Active TSS	HMEC	breast
18	chr6:44094000-44096800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:44094000-44096800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:44094200-44094800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr6:44094200-44094800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:44094200-44095600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:44094200-44095800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:44094200-44095800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:44094200-44096000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr6:44094200-44096000	Active TSS	Pancreas	Pancrea
27	chr6:44094200-44096200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:44094200-44096200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:44094200-44096200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:44094200-44096200	Active TSS	Fetal Intestine Small	intestine
31	chr6:44094200-44096200	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr6:44094200-44096200	Active TSS	GM12878-XiMat	blood
33	chr6:44094200-44096200	Active TSS	Osteobl	bone
34	chr6:44094200-44096400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:44094200-44096400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:44094200-44096400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr6:44094200-44096400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:44094200-44096400	Active TSS	Small Intestine	intestine
39	chr6:44094200-44096400	Active TSS	NHDF-Ad	bronchial
40	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
43	chr6:44094200-44096800	Active TSS	HSMM	muscle
44	chr6:44094400-44094800	Active TSS	Brain Germinal Matrix	brain
45	chr6:44094400-44094800	Flanking Active TSS	Fetal Brain Male	brain
46	chr6:44094400-44095400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:44094400-44095400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:44094400-44095600	Active TSS	Stomach Smooth Muscle	stomach
49	chr6:44094400-44095600	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr6:44094400-44095800	Active TSS	Primary monocytes fromperipheralblood	blood

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