Variant report

Variant	rs6929948
Chromosome Location	chr6:13328665-13328666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:351)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:13328391-13328795	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:13328425-13329325	HL-60	blood:	n/a	n/a
3	MYC	chr6:13328060-13329213	NB4	blood:	n/a	chr6:13328673-13328683 chr6:13328819-13328829
4	MXI1	chr6:13327977-13329420	IMR90	lung:	n/a	n/a
5	RCOR1	chr6:13328281-13329211	GM12878	blood:	n/a	n/a
6	TCF7L2	chr6:13328426-13329104	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:13328230-13329490	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:13328287-13329337	Raji	blood:	n/a	n/a
9	POLR2A	chr6:13327804-13329248	HUVEC	blood vessel:	n/a	n/a
10	CEBPD	chr6:13328290-13329043	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:13328494-13329163	U87	brain:	n/a	n/a
12	ETS1	chr6:13328458-13329005	K562	blood:	n/a	chr6:13328826-13328841 chr6:13328673-13328684 chr6:13328961-13328970
13	ZNF263	chr6:13328177-13329214	HEK293-T-REx	kidney:	n/a	chr6:13328663-13328672
14	NRF1	chr6:13327724-13329225	SK-N-SH	brain:	n/a	chr6:13328789-13328800 chr6:13328807-13328818 chr6:13328697-13328706
15	POLR2A	chr6:13327880-13329707	K562	blood:	n/a	n/a
16	YY1	chr6:13328401-13329000	HCT-116	colon:	n/a	chr6:13328816-13328830 chr6:13328675-13328684
17	POLR2A	chr6:13328403-13329150	SK-N-MC	brain:	n/a	n/a
18	SMC3	chr6:13328235-13329106	K562	blood:	n/a	n/a
19	HA-E2F1	chr6:13328278-13329280	MCF-7	breast:	n/a	chr6:13328675-13328684
20	TBP	chr6:13328285-13329172	GM12878	blood:	n/a	n/a
21	ELK1	chr6:13328491-13328930	K562	blood:	n/a	n/a
22	E2F6	chr6:13328575-13329204	K562	blood:	n/a	chr6:13328675-13328684
23	TAF1	chr6:13328575-13328985	PFSK-1	brain:	n/a	n/a
24	BRCA1	chr6:13327964-13329289	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr6:13328252-13329308	HCT-116	colon:	n/a	n/a
26	POLR2A	chr6:13328307-13329289	ProgFib	skin:	n/a	n/a
27	TAF1	chr6:13328291-13329283	PFSK-1	brain:	n/a	n/a
28	GTF2F1	chr6:13327865-13329181	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr6:13328536-13329027	GM12892	blood:	n/a	n/a
30	POLR2A	chr6:13328144-13329288	K562	blood:	n/a	n/a
31	POLR2A	chr6:13328258-13329208	HCT-116	colon:	n/a	n/a
32	GABPA	chr6:13328501-13329015	K562	blood:	n/a	chr6:13328697-13328706
33	POLR2A	chr6:13327899-13329333	Hela-S3	cervix:	n/a	n/a
34	THAP1	chr6:13328521-13329122	K562	blood:	n/a	n/a
35	ZMIZ1	chr6:13328006-13329195	K562	blood:	n/a	n/a
36	POLR2A	chr6:13328491-13329095	GM10847	blood:	n/a	n/a
37	USF2	chr6:13328610-13328994	GM12878	blood:	n/a	n/a
38	E2F6	chr6:13328334-13329225	K562	blood:	n/a	chr6:13328675-13328684
39	POLR2A	chr6:13328322-13329221	A549	lung:	n/a	n/a
40	RCOR1	chr6:13328418-13329207	HepG2	liver:	n/a	n/a
41	YY1	chr6:13328270-13329105	GM12878	blood:	n/a	chr6:13328816-13328830 chr6:13328675-13328684
42	MAX	chr6:13328232-13329307	K562	blood:	n/a	chr6:13328673-13328683 chr6:13328819-13328829
43	TAF1	chr6:13328233-13329102	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr6:13328458-13329115	A549	lung:	n/a	n/a
45	SIN3AK20	chr6:13327999-13329377	MCF-7	breast:	n/a	n/a
46	POLR2A	chr6:13328277-13329269	PANC-1	pancreas:	n/a	n/a
47	EP300	chr6:13328585-13328706	GM12878	blood:	n/a	n/a
48	PML	chr6:13328485-13329170	MCF-7	breast:	n/a	n/a
49	HDAC2	chr6:13328212-13329143	MCF-7	breast:	n/a	n/a
50	SIN3AK20	chr6:13328202-13329065	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13328662-13328712	HAEpiC	amniotic membrane:	n/a
2	chr6:13328662-13328712	AG09309	skin:	n/a
3	chr6:13328662-13328712	NHDF-neo	bronchial:	n/a
4	chr6:13328662-13328712	PFSK-1	brain:	n/a
5	chr6:13328662-13328712	AoSMC	blood vessel:	n/a
6	chr6:13328662-13328712	GM12892	blood:	n/a
7	chr6:13328662-13328712	K562	blood:	n/a
8	chr6:13328662-13328712	HCPEpiC	choroid plexus:	n/a
9	chr6:13328662-13328712	NH-A	brain:	n/a
10	chr6:13328662-13328712	H1-hESC	embryonic stem cell:	embryo
11	chr6:13328662-13328712	NHBE	bronchial:	n/a
12	chr6:13328662-13328712	CMK	blood:	n/a
13	chr6:13328662-13328712	HL-60	blood:	n/a
14	chr6:13328662-13328712	Hepatocyte	liver:	n/a
15	chr6:13328662-13328712	ovcar-3	ovarian:	n/a
16	chr6:13328662-13328712	HUVEC	blood vessel:	n/a
17	chr6:13328662-13328712	GM12891	blood:	n/a
18	chr6:13328662-13328712	AG04450	lung:	fetal
19	chr6:13328662-13328712	Hela-S3	cervix:	n/a
20	chr6:13328662-13328712	HCF	heart:	n/a
21	chr6:13328662-13328712	HEEpiC	esophagus:	n/a
22	chr6:13328662-13328712	HEK293	kidney:	embryo
23	chr6:13328662-13328712	HCM	heart:	n/a
24	chr6:13328662-13328712	HIPEpiC	eye:	n/a
25	chr6:13328662-13328712	HPAEpiC	pulmonary alveolar:	n/a
26	chr6:13328662-13328712	MCF10A-Er-Src	breast:	n/a
27	chr6:13328662-13328712	NB4	blood:	n/a
28	chr6:13328662-13328712	ECC-1	luminal epithelium:	n/a
29	chr6:13328662-13328712	HMEC	breast:	n/a
30	chr6:13328662-13328712	GM12878	blood:	n/a
31	chr6:13328662-13328712	T-47D	breast:	n/a
32	chr6:13328662-13328712	GM06990	blood:	n/a
33	chr6:13328662-13328712	HCT-116	colon:	n/a
34	chr6:13328662-13328712	SAEC	small airway:	n/a
35	chr6:13328662-13328712	SK-N-MC	brain:	n/a
36	chr6:13328662-13328712	PANC-1	pancreas:	n/a
37	chr6:13328662-13328712	NT2-D1	testis:	n/a
38	chr6:13328662-13328712	BJ	skin:	n/a
39	chr6:13328662-13328712	HRE	kidney:	n/a
40	chr6:13328662-13328712	AG10803	skin:	n/a
41	chr6:13328662-13328712	PrEC	prostate:	n/a
42	chr6:13328662-13328712	U87	brain:	n/a
43	chr6:13328662-13328712	HRPEpiC	eye:	n/a
44	chr6:13328662-13328712	SK-N-SH_RA	brain:	n/a
45	chr6:13328662-13328712	LNCaP	prostate:	n/a
46	chr6:13328662-13328712	SK-N-SH	brain:	n/a
47	chr6:13328662-13328712	BE2_C	brain:	n/a
48	chr6:13328662-13328712	A549	lung:	n/a
49	chr6:13328662-13328712	IMR90	lung:	fetal
50	chr6:13328662-13328712	Caco-2	colon:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13328120..13330665-chr6:45294928..45297649,2	MCF-7	breast:
2	chr6:13326831..13329117-chr6:13574155..13576632,2	K562	blood:
3	chr15:42565452..42566007-chr6:13328640..13329262,2	Hela-S3	cervix:
4	chr20:3868685..3869558-chr6:13328646..13329638,2	HCT-116	colon:
5	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
6	chr14:75745249..75745991-chr6:13328581..13329126,2	Hela-S3	cervix:
7	chr6:13268970..13278598-chr6:13326296..13332818,15	K562	blood:
8	chr2:28973856..28974517-chr6:13328305..13328848,2	HCT-116	colon:
9	chr6:13327393..13331113-chr6:13573725..13577168,7	MCF-7	breast:
10	chr6:13272205..13274313-chr6:13327989..13330165,3	K562	blood:
11	chr6:13328551..13330063-chr6:13614830..13616645,2	MCF-7	breast:
12	chr11:64008240..64009007-chr6:13328229..13328888,2	Hela-S3	cervix:
13	chr6:13327180..13330479-chr6:13614329..13617751,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GFOD1-1	chr6:13328528-13328770	NONHSAT107798

No data

Variant related genes	Relation type
TBC1D7	TF binding region
TBC1D7	CpG island
ENSG00000125779	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000187461	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000213639	Chromatin interaction
ENSG00000229539	Chromatin interaction
ENSG00000237786	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11759931	1.00[AMR][1000 genomes]
rs17700516	0.91[ASN][1000 genomes]
rs6929987	0.94[ASN][1000 genomes]
rs73723267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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 miRNA target site	22 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	chr6:13326000-13329000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:13327200-13329800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:13327400-13329000	Active TSS	GM12878-XiMat	blood
4	chr6:13327400-13329200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:13327400-13329200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:13327400-13329200	Active TSS	K562	blood
7	chr6:13327400-13329400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:13327400-13329400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:13327400-13329400	Active TSS	Fetal Kidney	kidney
10	chr6:13327400-13329600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:13327400-13329800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:13327400-13329800	Active TSS	Fetal Brain Male	brain
13	chr6:13327600-13329000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:13327600-13329000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:13327600-13329000	Active TSS	Fetal Brain Female	brain
16	chr6:13327600-13329000	Active TSS	Hela-S3	cervix
17	chr6:13327600-13329200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:13327600-13329200	Active TSS	Fetal Lung	lung
19	chr6:13327600-13329400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:13327600-13329400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:13327600-13329400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:13327600-13329400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr6:13327600-13329400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:13327600-13329400	Active TSS	A549	lung
25	chr6:13327600-13329400	Active TSS	NHDF-Ad	bronchial
26	chr6:13327600-13329600	Active TSS	Brain Germinal Matrix	brain
27	chr6:13327600-13329800	Active TSS	H1 Cell Line	embryonic stem cell
28	chr6:13327600-13329800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:13327600-13329800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:13327800-13329000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:13327800-13329000	Active TSS	Primary T cells fromperipheralblood	blood
32	chr6:13327800-13329000	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr6:13327800-13329000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr6:13327800-13329000	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr6:13327800-13329000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:13327800-13329000	Active TSS	Colonic Mucosa	Colon
37	chr6:13327800-13329000	Active TSS	Placenta	Placenta
38	chr6:13327800-13329000	Active TSS	Fetal Thymus	thymus
39	chr6:13327800-13329000	Bivalent/Poised TSS	HepG2	liver
40	chr6:13327800-13329200	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:13327800-13329200	Active TSS	Brain Angular Gyrus	brain
42	chr6:13327800-13329200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:13327800-13329200	Active TSS	Fetal Stomach	stomach
44	chr6:13327800-13329200	Active TSS	Small Intestine	intestine
45	chr6:13327800-13329400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr6:13327800-13329400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr6:13327800-13329400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:13327800-13329400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr6:13327800-13329400	Active TSS	Fetal Intestine Large	intestine
50	chr6:13327800-13329400	Active TSS	Fetal Intestine Small	intestine

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