Variant report

Variant	rs548326318
Chromosome Location	chr6:26520575-26520576
allele	-/AA
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	USF1	chr6:26520535-26521004	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr6:26520543-26521095	SK-N-SH	brain:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
3	MAX	chr6:26520505-26521041	MCF-7	breast:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
4	EGR1	chr6:26520448-26521604	K562	blood:	n/a	chr6:26521323-26521336 chr6:26521328-26521343 chr6:26521329-26521342 chr6:26521322-26521337 chr6:26521047-26521061 chr6:26521350-26521363 chr6:26521083-26521097 chr6:26521332-26521341 chr6:26521327-26521337 chr6:26521063-26521077
5	MAX	chr6:26520313-26521740	HepG2	liver:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
6	POLR2A	chr6:26520247-26521311	HepG2	liver:	n/a	n/a
7	MXI1	chr6:26520387-26522051	SK-N-SH	brain:	n/a	chr6:26520809-26520818
8	ZC3H11A	chr6:26520542-26521008	K562	blood:	n/a	n/a
9	POLR2A	chr6:26520570-26521064	K562	blood:	n/a	n/a
10	MTA3	chr6:26520278-26521040	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:26520394-26521034	PANC-1	pancreas:	n/a	n/a
12	MAX	chr6:26520515-26521763	HCT-116	colon:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
13	MAX	chr6:26520488-26521037	A549	lung:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
14	MAX	chr6:26520363-26522824	A549	lung:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
15	PML	chr6:26520480-26521311	K562	blood:	n/a	n/a
16	MYC	chr6:26520482-26521057	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
17	MTA3	chr6:26520571-26521086	GM12878	blood:	n/a	n/a
18	MAX	chr6:26520343-26521840	HCT-116	colon:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
19	POLR2A	chr6:26520362-26521047	HepG2	liver:	n/a	n/a
20	MAX	chr6:26520564-26521166	HepG2	liver:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
21	MAX	chr6:26520556-26521110	SK-N-SH	brain:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
22	E2F6	chr6:26520506-26521070	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYBL2	chr6:26520434-26521073	HepG2	liver:	n/a	n/a
24	EP300	chr6:26520574-26521783	ECC-1	luminal epithelium:	n/a	chr6:26521731-26521745
25	POLR2A	chr6:26520385-26522995	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr6:26520513-26521030	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
27	HEY1	chr6:26520338-26521075	K562	blood:	n/a	n/a
28	MAX	chr6:26520497-26521070	MCF-7	breast:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
29	USF1	chr6:26520559-26521179	HCT-116	colon:	n/a	chr6:26521158-26521174
30	TEAD4	chr6:26520270-26521048	K562	blood:	n/a	n/a
31	E2F6	chr6:26520473-26521095	A549	lung:	n/a	n/a
32	MAX	chr6:26520391-26521055	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
33	MBD4	chr6:26520494-26521046	HepG2	liver:	n/a	n/a
34	CBX3	chr6:26520534-26521061	K562	blood:	n/a	n/a
35	TEAD4	chr6:26520383-26521064	K562	blood:	n/a	n/a
36	MAX	chr6:26520496-26521212	ECC-1	luminal epithelium:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
37	MYC	chr6:26520531-26521050	MCF10A-Er-Src	breast:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
38	SREBP2	chr6:26520144-26522402	GM12878	blood:	n/a	n/a
39	MYC	chr6:26520382-26521622	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
40	MYBL2	chr6:26520530-26521078	HepG2	liver:	n/a	n/a
41	BHLHE40	chr6:26520433-26521031	K562	blood:	n/a	n/a
42	MAX	chr6:26520371-26521074	H1-hESC	embryonic stem cell:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
43	USF1	chr6:26520536-26520984	K562	blood:	n/a	n/a
44	MYC	chr6:26520531-26521587	NB4	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26521328-26521338 chr6:26520809-26520820
45	NFATC1	chr6:26520536-26521029	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:26520419-26521044	PFSK-1	brain:	n/a	n/a
47	MYC	chr6:26520413-26521072	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
48	NR2F2	chr6:26520382-26521024	K562	blood:	n/a	n/a
49	MAX	chr6:26520543-26521099	H1-hESC	embryonic stem cell:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820
50	MAX	chr6:26520496-26521170	K562	blood:	n/a	chr6:26520811-26520818 chr6:26520809-26520818 chr6:26520810-26520820 chr6:26520809-26520819 chr6:26520810-26520819 chr6:26520810-26520819 chr6:26520808-26520821 chr6:26520808-26520823 chr6:26520809-26520820

No.	Distal block	Cell Line	Cell type
1	chr6:26297237..26299588-chr6:26519952..26522018,2	K562	blood:
2	chr6:26383299..26384986-chr6:26520070..26522600,2	K562	blood:
3	chr6:26420252..26422779-chr6:26519711..26522673,2	K562	blood:
4	chr6:26229652..26232354-chr6:26520028..26522000,2	K562	blood:
5	chr6:26517743..26520869-chr6:26521157..26524450,4	MCF-7	breast:
6	chr6:26157128..26159753-chr6:26519202..26521718,3	K562	blood:
7	chr6:26195075..26199998-chr6:26518402..26523264,7	K562	blood:
8	chr6:26518768..26523261-chr6:26527138..26531427,8	MCF-7	breast:
9	chr6:26319791..26322184-chr6:26520367..26521947,2	K562	blood:
10	chr6:26122811..26125684-chr6:26519933..26522732,4	K562	blood:
11	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:
12	chr6:26352176..26356420-chr6:26519489..26524545,4	K562	blood:
13	chr6:26248591..26251636-chr6:26519454..26522320,3	K562	blood:
14	chr6:26520458..26524632-chr6:26536427..26540091,8	MCF-7	breast:
15	chr6:26519250..26523737-chr6:27099178..27105777,8	K562	blood:
16	chr6:26457960..26461047-chr6:26519488..26522400,3	MCF-7	breast:
17	chr6:26420245..26422646-chr6:26519763..26522632,2	K562	blood:
18	chr6:26399787..26402548-chr6:26520304..26522588,2	K562	blood:
19	chr6:26215412..26219085-chr6:26518224..26524021,6	K562	blood:
20	chr6:26122246..26124996-chr6:26519353..26522732,3	K562	blood:
21	chr5:44809278..44810132-chr6:26520519..26521156,2	Hela-S3	cervix:
22	chr6:26187760..26190799-chr6:26518890..26523308,5	K562	blood:
23	chr1:228783557..228784071-chr6:26519913..26520856,2	Hela-S3	cervix:
24	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
25	chr6:26284286..26286997-chr6:26519588..26522057,2	K562	blood:
26	chr6:26520371..26522004-chr6:27113193..27114715,2	K562	blood:
27	chr6:26283829..26285786-chr6:26519588..26522507,3	K562	blood:
28	chr6:26440218..26442900-chr6:26520172..26522018,2	K562	blood:

Variant related genes	Relation type
HCG11	TF binding region
RNU6-502P	TF binding region
ENSG00000180596	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124549	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000026950	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000261353	Chromatin interaction
ENSG00000112763	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000216331	Chromatin interaction
ENSG00000212237	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000220875	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000252399	Chromatin interaction
ENSG00000215979	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000111801	Chromatin interaction
ENSG00000188987	Chromatin interaction
ENSG00000186470	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv482407	chr6:26369320-26550148	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3421845	chr6:26519998-26522546	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
7	esv3415199	chr6:26520373-26522371	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26505600-26520600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26516200-26520600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:26517200-26520600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:26519000-26520600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:26520000-26520600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr6:26520200-26520600	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:26520200-26520600	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:26520200-26520600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:26520200-26520600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr6:26520200-26520600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr6:26520200-26520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:26520200-26520600	Enhancers	Fetal Heart	heart
13	chr6:26520200-26520600	Enhancers	Stomach Mucosa	stomach
14	chr6:26520200-26520600	Enhancers	NHDF-Ad	bronchial
15	chr6:26520400-26520600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:26520400-26520600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:26520400-26520600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:26520400-26520600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:26520400-26520600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:26520400-26520600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:26520400-26520600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:26520400-26520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:26520400-26520600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:26520400-26520600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr6:26520400-26520600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:26520400-26520600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:26520400-26520600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:26520400-26520600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:26520400-26520600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:26520400-26520600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:26520400-26520600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:26520400-26520600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:26520400-26520600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:26520400-26520600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:26520400-26520600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:26520400-26520600	Enhancers	Adipose Nuclei	Adipose
37	chr6:26520400-26520600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:26520400-26520600	Enhancers	Brain Substantia Nigra	brain
39	chr6:26520400-26520600	Flanking Active TSS	Fetal Brain Female	brain
40	chr6:26520400-26520600	Enhancers	Fetal Intestine Large	intestine
41	chr6:26520400-26520600	Enhancers	Fetal Intestine Small	intestine
42	chr6:26520400-26520600	Enhancers	Fetal Muscle Leg	muscle
43	chr6:26520400-26520600	Enhancers	Placenta	Placenta
44	chr6:26520400-26520600	Enhancers	Fetal Thymus	thymus
45	chr6:26520400-26520600	Enhancers	Left Ventricle	heart
46	chr6:26520400-26520600	Enhancers	Ovary	ovary
47	chr6:26520400-26520600	Enhancers	Pancreas	Pancrea
48	chr6:26520400-26520600	Enhancers	Psoas Muscle	Psoas
49	chr6:26520400-26520600	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr6:26520400-26520600	Enhancers	Small Intestine	intestine

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