Variant report

Variant	rs3135303
Chromosome Location	chr6:28834142-28834143
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28834087-28834656	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:28834129-28834995	GM19193	blood:	n/a	n/a
3	NFYB	chr6:28833219-28834388	GM12878	blood:	n/a	chr6:28833721-28833736
4	SP1	chr6:28833400-28834311	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr6:28833539-28834637	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:28834078-28835081	NB4	blood:	n/a	n/a
7	POLR2A	chr6:28833993-28834733	PANC-1	pancreas:	n/a	n/a
8	ELF1	chr6:28834078-28834757	GM12878	blood:	n/a	n/a
9	MAX	chr6:28834058-28835033	ECC-1	luminal epithelium:	n/a	n/a
10	NFYB	chr6:28833295-28834269	K562	blood:	n/a	chr6:28833721-28833736
11	HEY1	chr6:28834090-28834536	HepG2	liver:	n/a	n/a
12	CTCF	chr6:28834120-28834270	HEK293	kidney:	n/a	n/a
13	ELF1	chr6:28834104-28834804	GM12878	blood:	n/a	n/a
14	YY1	chr6:28834073-28835143	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAFK	chr6:28833557-28834230	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:28834140-28834861	GM18951	blood:	n/a	n/a
17	POLR2A	chr6:28834063-28834663	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr6:28834109-28834662	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr6:28834120-28834270	HepG2	liver:	n/a	n/a
20	MAX	chr6:28834116-28834657	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr6:28834017-28834825	ProgFib	skin:	n/a	n/a
22	POLR2A	chr6:28834136-28834799	A549	lung:	n/a	n/a
23	POLR2A	chr6:28834112-28834767	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr6:28834128-28835057	A549	lung:	n/a	n/a
25	SP1	chr6:28833253-28834578	A549	lung:	n/a	n/a
26	ZBTB33	chr6:28834117-28834701	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr6:28834125-28834833	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr6:28834125-28835211	HL-60	blood:	n/a	n/a
29	PML	chr6:28834140-28834648	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:28834041-28834578	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:28834132-28834706	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:28834064-28834726	HepG2	liver:	n/a	n/a
33	SP1	chr6:28833389-28834362	H1-hESC	embryonic stem cell:	n/a	n/a
34	RFX5	chr6:28834135-28834518	HepG2	liver:	n/a	n/a
35	MAFF	chr6:28833366-28834173	HepG2	liver:	n/a	n/a
36	HDAC2	chr6:28834116-28834665	MCF-7	breast:	n/a	n/a
37	RUNX3	chr6:28834098-28834374	GM12878	blood:	n/a	n/a
38	YY1	chr6:28834139-28835089	GM12878	blood:	n/a	n/a
39	YY1	chr6:28834093-28834571	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr6:28834105-28835025	GM15510	blood:	n/a	n/a
41	MAX	chr6:28834067-28835259	HepG2	liver:	n/a	n/a
42	NFYA	chr6:28833232-28834278	K562	blood:	n/a	chr6:28833763-28833781 chr6:28833715-28833733
43	SP1	chr6:28833383-28834147	K562	blood:	n/a	n/a
44	MAX	chr6:28834102-28834577	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr6:28834100-28834848	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr6:28834075-28834995	HepG2	liver:	n/a	n/a
47	EBF1	chr6:28834077-28834347	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:28834065-28835028	GM19099	blood:	n/a	n/a
49	POLR2A	chr6:28834127-28835187	K562	blood:	n/a	n/a
50	POLR2A	chr6:28834109-28835140	K562	blood:	n/a	n/a

No data

(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
ENSG00000225173	Chromatin interaction
ENSG00000233366	Chromatin interaction
ENSG00000197935	Chromatin interaction
ENSG00000272236	Chromatin interaction
ENSG00000224157	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000168298	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1002925	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233602	0.85[EUR][1000 genomes]
rs1237485	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476016	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs169683	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1794587	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs184093	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2013848	0.81[ASN][1000 genomes]
rs2032500	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071785	0.84[ASN][1000 genomes]
rs2071790	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs209122	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs209126	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209128	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209129	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209137	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs209138	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209148	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs209149	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209152	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs209153	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs209160	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209164	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs209169	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs209171	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209173	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs209175	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209176	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs209179	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs209182	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs209184	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs209186	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2157312	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2157313	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2187807	0.83[ASN][1000 genomes]
rs2187808	0.83[ASN][1000 genomes]
rs2208536	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2754764	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2754767	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765218	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765219	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2765229	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3129792	0.85[EUR][1000 genomes]
rs3129793	0.83[EUR][1000 genomes]
rs3130841	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130842	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130886	0.86[EUR][1000 genomes]
rs3130889	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3130897	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3131070	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3131074	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3131077	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3131100	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3131102	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3131342	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3132371	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132386	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3135315	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3135319	0.80[EUR][1000 genomes]
rs3135321	0.85[EUR][1000 genomes]
rs3135322	0.87[EUR][1000 genomes]
rs3135323	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3135324	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3135326	0.84[EUR][1000 genomes]
rs3135327	0.87[EUR][1000 genomes]
rs3135328	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs377392	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs381808	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs386628	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs393431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4427026	0.81[ASN][1000 genomes]
rs4713186	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4713187	0.81[ASN][1000 genomes]
rs4713188	0.82[ASN][1000 genomes]
rs4947339	0.81[ASN][1000 genomes]
rs526983	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6456857	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6456876	0.83[ASN][1000 genomes]
rs6901599	0.83[ASN][1000 genomes]
rs6914955	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6931823	0.81[ASN][1000 genomes]
rs763009	0.88[EUR][1000 genomes]
rs7743189	0.80[ASN][1000 genomes]
rs7755875	0.84[ASN][1000 genomes]
rs7761547	0.81[ASN][1000 genomes]
rs9257229	0.83[EUR][1000 genomes]
rs9257401	0.81[ASN][1000 genomes]
rs9257405	0.82[ASN][1000 genomes]
rs9257421	0.82[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:123 , 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	chr6:28832400-28834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:28832600-28834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:28832600-28834200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:28832600-28834200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:28832600-28834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:28832600-28834200	Weak transcription	Aorta	Aorta
10	chr6:28832600-28834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:28832600-28834200	Weak transcription	Gastric	stomach
12	chr6:28832600-28834200	Weak transcription	Left Ventricle	heart
13	chr6:28832600-28834200	Weak transcription	Lung	lung
14	chr6:28832600-28834200	Weak transcription	Ovary	ovary
15	chr6:28832600-28834200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:28832600-28834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:28832600-28834200	Weak transcription	Spleen	Spleen
18	chr6:28832600-28834200	Weak transcription	NH-A	brain
19	chr6:28832600-28834200	Weak transcription	NHDF-Ad	bronchial
20	chr6:28832600-28835200	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:28832800-28834200	Weak transcription	Liver	Liver
22	chr6:28832800-28834200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:28832800-28834200	Weak transcription	Small Intestine	intestine
24	chr6:28832800-28834200	Weak transcription	NHLF	lung
25	chr6:28832800-28834600	Weak transcription	Fetal Brain Male	brain
26	chr6:28832800-28834600	Weak transcription	Stomach Mucosa	stomach
27	chr6:28832800-28834800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:28832800-28834800	Weak transcription	Fetal Heart	heart
29	chr6:28833000-28835000	Active TSS	Rectal Smooth Muscle	rectum
30	chr6:28833200-28834600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr6:28833200-28834800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:28833400-28834600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr6:28833400-28834800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr6:28833400-28834800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr6:28833400-28834800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:28833400-28834800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:28833400-28834800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:28833400-28834800	Active TSS	Colon Smooth Muscle	Colon
39	chr6:28833400-28835000	Active TSS	Duodenum Mucosa	Duodenum
40	chr6:28833400-28835200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:28833400-28835400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr6:28833600-28834600	Active TSS	Primary T cells from cord blood	blood
43	chr6:28833600-28834600	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:28833600-28834600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:28833600-28834600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:28833600-28834600	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr6:28833600-28834800	Active TSS	Primary B cells from cord blood	blood
48	chr6:28833600-28834800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:28833600-28834800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr6:28833600-28834800	Active TSS	Fetal Lung	lung

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