Variant report

Variant	rs11759525
Chromosome Location	chr6:28834287-28834288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:61)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:28834176-28834359	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr6:28834282-28834323	GM13977	blood:	n/a	n/a
3	YY1	chr6:28834177-28835144	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:28834087-28834656	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:28834129-28834995	GM19193	blood:	n/a	n/a
6	RCOR1	chr6:28834238-28834615	HepG2	liver:	n/a	n/a
7	TAF1	chr6:28834250-28834469	SK-N-SH	brain:	n/a	n/a
8	NRF1	chr6:28834250-28834609	GM12878	blood:	n/a	n/a
9	CTCF	chr6:28834200-28834350	SK-N-SH_RA	brain:	n/a	n/a
10	ZBTB7A	chr6:28834199-28834757	K562	blood:	n/a	n/a
11	NFYB	chr6:28833219-28834388	GM12878	blood:	n/a	chr6:28833721-28833736
12	POLR2A	chr6:28834150-28834574	HepG2	liver:	n/a	n/a
13	SP1	chr6:28833400-28834311	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:28834164-28834353	MCF-7	breast:	n/a	n/a
15	NFIC	chr6:28834242-28834591	HepG2	liver:	n/a	n/a
16	SP1	chr6:28833539-28834637	GM12878	blood:	n/a	n/a
17	ETS1	chr6:28834222-28834566	A549	lung:	n/a	n/a
18	POLR2A	chr6:28834078-28835081	NB4	blood:	n/a	n/a
19	POLR2A	chr6:28833993-28834733	PANC-1	pancreas:	n/a	n/a
20	ELF1	chr6:28834078-28834757	GM12878	blood:	n/a	n/a
21	MAX	chr6:28834058-28835033	ECC-1	luminal epithelium:	n/a	n/a
22	HEY1	chr6:28834090-28834536	HepG2	liver:	n/a	n/a
23	MAZ	chr6:28834243-28834457	GM12878	blood:	n/a	n/a
24	MYC	chr6:28834177-28834802	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:28834147-28835117	K562	blood:	n/a	n/a
26	YY1	chr6:28834148-28835131	SK-N-SH_RA	brain:	n/a	n/a
27	ELF1	chr6:28834104-28834804	GM12878	blood:	n/a	n/a
28	YY1	chr6:28834073-28835143	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:28834140-28834861	GM18951	blood:	n/a	n/a
30	POLR2A	chr6:28834063-28834663	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr6:28834257-28834952	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr6:28834109-28834662	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr6:28834185-28835085	SK-N-SH	brain:	n/a	n/a
34	MAX	chr6:28834116-28834657	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr6:28834017-28834825	ProgFib	skin:	n/a	n/a
36	POLR2A	chr6:28834136-28834799	A549	lung:	n/a	n/a
37	POLR2A	chr6:28834112-28834767	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr6:28834128-28835057	A549	lung:	n/a	n/a
39	MAX	chr6:28834200-28834573	A549	lung:	n/a	n/a
40	SP1	chr6:28833253-28834578	A549	lung:	n/a	n/a
41	ZBTB33	chr6:28834117-28834701	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr6:28834125-28834833	PFSK-1	brain:	n/a	n/a
43	MAX	chr6:28834213-28834865	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:28834125-28835211	HL-60	blood:	n/a	n/a
45	PML	chr6:28834140-28834648	MCF-7	breast:	n/a	n/a
46	ELF1	chr6:28834148-28834770	K562	blood:	n/a	n/a
47	POLR2A	chr6:28834041-28834578	HepG2	liver:	n/a	n/a
48	POLR2A	chr6:28834132-28834706	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr6:28834064-28834726	HepG2	liver:	n/a	n/a
50	MYC	chr6:28834187-28835191	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28834254-28834304	AG09319	gingival:	n/a
2	chr6:28834254-28834304	PANC-1	pancreas:	n/a
3	chr6:28834254-28834304	HRE	kidney:	n/a
4	chr6:28834254-28834304	SK-N-SH_RA	brain:	n/a
5	chr6:28834254-28834304	CMK	blood:	n/a
6	chr6:28834254-28834304	HL-60	blood:	n/a
7	chr6:28834254-28834304	HCT-116	colon:	n/a
8	chr6:28834254-28834304	PFSK-1	brain:	n/a
9	chr6:28834254-28834304	PrEC	prostate:	n/a
10	chr6:28834254-28834304	GM06990	blood:	n/a
11	chr6:28834254-28834304	AG10803	skin:	n/a
12	chr6:28834254-28834304	SKMC	muscle:	n/a
13	chr6:28834254-28834304	K562	blood:	n/a
14	chr6:28834254-28834304	NH-A	brain:	n/a
15	chr6:28834254-28834304	MCF-7	breast:	n/a
16	chr6:28834254-28834304	HEEpiC	esophagus:	n/a
17	chr6:28834254-28834304	NHDF-neo	bronchial:	n/a
18	chr6:28834254-28834304	HEK293	kidney:	embryo
19	chr6:28834254-28834304	Hela-S3	cervix:	n/a
20	chr6:28834254-28834304	HUVEC	blood vessel:	n/a
21	chr6:28834254-28834304	BE2_C	brain:	n/a
22	chr6:28834254-28834304	Hepatocyte	liver:	n/a
23	chr6:28834254-28834304	NB4	blood:	n/a
24	chr6:28834254-28834304	MCF10A-Er-Src	breast:	n/a
25	chr6:28834254-28834304	HRPEpiC	eye:	n/a
26	chr6:28834254-28834304	LNCaP	prostate:	n/a
27	chr6:28834254-28834304	GM19239	blood:	n/a
28	chr6:28834254-28834304	NHBE	bronchial:	n/a
29	chr6:28834254-28834304	ovcar-3	ovarian:	n/a
30	chr6:28834254-28834304	GM12878	blood:	n/a
31	chr6:28834254-28834304	HCF	heart:	n/a
32	chr6:28834254-28834304	BJ	skin:	n/a
33	chr6:28834254-28834304	ProgFib	skin:	n/a
34	chr6:28834254-28834304	HMEC	breast:	n/a
35	chr6:28834254-28834304	HepG2	liver:	n/a
36	chr6:28834254-28834304	ECC-1	luminal epithelium:	n/a
37	chr6:28834254-28834304	HIPEpiC	eye:	n/a
38	chr6:28834254-28834304	AG04449	skin:	fetal
39	chr6:28834254-28834304	RPTEC	kidney:	n/a
40	chr6:28834254-28834304	HAEpiC	amniotic membrane:	n/a
41	chr6:28834254-28834304	GM12892	blood:	n/a
42	chr6:28834254-28834304	H1-hESC	embryonic stem cell:	embryo
43	chr6:28834254-28834304	A549	lung:	n/a
44	chr6:28834254-28834304	HCM	heart:	n/a
45	chr6:28834254-28834304	GM12891	blood:	n/a
46	chr6:28834254-28834304	U87	brain:	n/a
47	chr6:28834254-28834304	Jurkat	blood:	n/a
48	chr6:28834254-28834304	T-47D	breast:	n/a
49	chr6:28834254-28834304	AoSMC	blood vessel:	n/a
50	chr6:28834254-28834304	SK-N-MC	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28803282..28808663-chr6:28829877..28836776,13	K562	blood:
2	chr6:26156500..26158004-chr6:28832615..28834649,2	K562	blood:
3	chr6:28833014..28834989-chr6:28890241..28892787,3	K562	blood:
4	chr6:28832887..28834550-chr6:28979904..28981561,2	K562	blood:
5	chr6:28812954..28815391-chr6:28833633..28835184,2	MCF-7	breast:
6	chr6:28802885..28808466-chr6:28831550..28836351,8	MCF-7	breast:
7	chr6:28833478..28838269-chr6:28843234..28846516,6	MCF-7	breast:
8	chr6:28833109..28835315-chr6:29719168..29721447,2	K562	blood:
9	chr6:28825252..28827430-chr6:28833633..28835942,2	MCF-7	breast:
10	chr6:28832613..28834387-chr6:28980061..28982005,2	K562	blood:
11	chr6:28803282..28808495-chr6:28830531..28834946,8	K562	blood:
12	chr6:28833493..28835780-chr6:28880062..28881962,2	MCF-7	breast:
13	chr6:28828478..28839935-chr6:28855092..28866386,31	K562	blood:
14	chr6:28830882..28836292-chr6:28860588..28866545,10	MCF-7	breast:
15	chr6:28833354..28837219-chr6:28837839..28842041,5	MCF-7	breast:
16	chr6:28810165..28812490-chr6:28833681..28835706,2	MCF-7	breast:
17	chr6:28831130..28836886-chr6:28890033..28892870,9	MCF-7	breast:
18	chr6:28833368..28835844-chr6:28972691..28974962,2	MCF-7	breast:
19	chr6:28831640..28835125-chr6:28890004..28893108,3	MCF-7	breast:
20	chr6:28833368..28834989-chr6:28890241..28892472,3	K562	blood:
21	chr6:28831550..28833211-chr6:28833226..28834745,2	MCF-7	breast:
22	chr6:28823126..28835109-chr6:28859268..28867076,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225595	TF binding region
ENSG00000225595	CpG island
ENSG00000225595	Chromatin interaction
ENSG00000225173	Chromatin interaction
ENSG00000224157	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000233366	Chromatin interaction
ENSG00000272236	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000197935	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11753443	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961493	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964044	0.82[EUR][1000 genomes]
rs11966136	0.91[EUR][1000 genomes]
rs11966547	0.82[EUR][1000 genomes]
rs11966708	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968644	1.00[ASN][1000 genomes]
rs3131103	0.82[EUR][1000 genomes]
rs34840519	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58971829	0.82[EUR][1000 genomes]
rs59858792	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6456867	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393707	0.82[EUR][1000 genomes]
rs73403179	0.82[EUR][1000 genomes]
rs73403189	0.82[EUR][1000 genomes]
rs73407223	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407254	0.82[EUR][1000 genomes]
rs73408589	0.82[EUR][1000 genomes]
rs7749527	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755410	1.00[ASN][1000 genomes]

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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28830600-28834800	Active TSS	A549	lung
2	chr6:28831000-28834800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:28831000-28835000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:28832600-28835200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr6:28832800-28834600	Weak transcription	Fetal Brain Male	brain
6	chr6:28832800-28834600	Weak transcription	Stomach Mucosa	stomach
7	chr6:28832800-28834800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr6:28832800-28834800	Weak transcription	Fetal Heart	heart
9	chr6:28833000-28835000	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:28833200-28834600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:28833200-28834800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr6:28833400-28834600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr6:28833400-28834800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:28833400-28834800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:28833400-28834800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:28833400-28834800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:28833400-28834800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:28833400-28834800	Active TSS	Colon Smooth Muscle	Colon
19	chr6:28833400-28835000	Active TSS	Duodenum Mucosa	Duodenum
20	chr6:28833400-28835200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:28833400-28835400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:28833600-28834600	Active TSS	Primary T cells from cord blood	blood
23	chr6:28833600-28834600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:28833600-28834600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:28833600-28834600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:28833600-28834600	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:28833600-28834800	Active TSS	Primary B cells from cord blood	blood
28	chr6:28833600-28834800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:28833600-28834800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:28833600-28834800	Active TSS	Fetal Lung	lung
31	chr6:28833600-28834800	Active TSS	Thymus	Thymus
32	chr6:28833600-28834800	Active TSS	HepG2	liver
33	chr6:28833600-28835000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:28833800-28834600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:28833800-28834600	Active TSS	Adipose Nuclei	Adipose
36	chr6:28833800-28834800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:28833800-28834800	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr6:28833800-28834800	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr6:28833800-28834800	Active TSS	Brain Angular Gyrus	brain
40	chr6:28833800-28834800	Active TSS	Fetal Brain Female	brain
41	chr6:28833800-28834800	Active TSS	Fetal Intestine Small	intestine
42	chr6:28833800-28834800	Active TSS	Fetal Kidney	kidney
43	chr6:28833800-28835000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr6:28833800-28835000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:28833800-28835000	Active TSS	Stomach Smooth Muscle	stomach
46	chr6:28834000-28834400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:28834000-28834400	Active TSS	Primary hematopoietic stem cells	blood
48	chr6:28834000-28834400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:28834000-28834600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:28834000-28834600	Active TSS	Primary T cells fromperipheralblood	blood

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