Variant report

Variant	rs7336498
Chromosome Location	chr13:76112312-76112313
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	MYC	chr13:76111756-76112537	MCF10A-Er-Src	breast:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
2	MAX	chr13:76111431-76112733	HepG2	liver:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
3	POLR2A	chr13:76112228-76112499	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr13:76112130-76112576	H1-hESC	embryonic stem cell:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
5	SIN3A	chr13:76111417-76112539	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr13:76111405-76112641	NB4	blood:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
7	POLR2A	chr13:76111706-76112437	IMR90	lung:	n/a	n/a
8	UBTF	chr13:76111471-76112399	K562	blood:	n/a	n/a
9	ELF1	chr13:76111499-76112586	HCT-116	colon:	n/a	chr13:76112406-76112418 chr13:76111993-76112006
10	POLR2A	chr13:76112212-76112504	A549	lung:	n/a	n/a
11	RCOR1	chr13:76111557-76112528	Hela-S3	cervix:	n/a	n/a
12	MYC	chr13:76112221-76112525	MCF-7	breast:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
13	SP1	chr13:76111827-76112593	H1-hESC	embryonic stem cell:	n/a	chr13:76112255-76112264 chr13:76112408-76112420 chr13:76112253-76112265 chr13:76112254-76112263 chr13:76112409-76112419 chr13:76112408-76112420 chr13:76112253-76112265 chr13:76112255-76112264 chr13:76112409-76112418 chr13:76112250-76112264 chr13:76112409-76112419 chr13:76112410-76112419
14	RCOR1	chr13:76111505-76112622	K562	blood:	n/a	n/a
15	USF1	chr13:76112084-76112585	SK-N-SH	brain:	n/a	n/a
16	MYC	chr13:76111563-76112637	MCF10A-Er-Src	breast:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
17	TBP	chr13:76111388-76112586	Hela-S3	cervix:	n/a	n/a
18	STAT5A	chr13:76111730-76112509	GM12878	blood:	n/a	n/a
19	HA-E2F1	chr13:76111664-76112541	MCF-7	breast:	n/a	n/a
20	POLR2A	chr13:76112158-76112472	HepG2	liver:	n/a	n/a
21	CHD1	chr13:76111515-76112632	GM12878	blood:	n/a	n/a
22	CREB1	chr13:76111842-76112398	A549	lung:	n/a	n/a
23	TCF12	chr13:76111584-76112595	ECC-1	luminal epithelium:	n/a	n/a
24	ELK4	chr13:76111528-76112313	Hela-S3	cervix:	n/a	chr13:76111992-76112003
25	MAFF	chr13:76112042-76112472	HepG2	liver:	n/a	n/a
26	TAF1	chr13:76112169-76112497	SK-N-SH	brain:	n/a	n/a
27	IRF1	chr13:76111584-76112527	K562	blood:	n/a	chr13:76112253-76112267 chr13:76111812-76111832 chr13:76112076-76112085 chr13:76112408-76112422
28	POLR2A	chr13:76111347-76112497	PBDE	blood:	n/a	n/a
29	ELF1	chr13:76111808-76112412	A549	lung:	n/a	chr13:76111993-76112006
30	USF1	chr13:76112135-76112349	HepG2	liver:	n/a	n/a
31	CHD2	chr13:76111795-76112421	K562	blood:	n/a	n/a
32	MAX	chr13:76112131-76112430	K562	blood:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
33	EP300	chr13:76111807-76112497	GM12878	blood:	n/a	chr13:76112076-76112085
34	CTCF	chr13:76112307-76112440	GM19239	blood:	n/a	n/a
35	POLR2A	chr13:76111593-76112563	K562	blood:	n/a	n/a
36	RUNX3	chr13:76111556-76112575	GM12878	blood:	n/a	n/a
37	KAP1	chr13:76111412-76112638	HEK293	kidney:	n/a	n/a
38	ZKSCAN1	chr13:76111631-76112472	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr13:76111591-76112539	Gliobla	brain:	n/a	n/a
40	E2F6	chr13:76111446-76112799	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr13:76111573-76112582	MCF-7	breast:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
42	EP300	chr13:76111782-76112493	H1-hESC	embryonic stem cell:	n/a	chr13:76112076-76112085
43	USF1	chr13:76112073-76112468	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr13:76111859-76112447	H1-hESC	embryonic stem cell:	n/a	chr13:76112075-76112084 chr13:76112253-76112262
45	POLR2A	chr13:76111665-76112513	GM10847	blood:	n/a	n/a
46	POLR2A	chr13:76111516-76112548	GM19193	blood:	n/a	n/a
47	SP4	chr13:76111846-76112359	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr13:76112176-76112500	GM12878	blood:	n/a	n/a
49	ELK1	chr13:76111705-76112360	K562	blood:	n/a	n/a
50	POLR2A	chr13:76111550-76112553	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76112274-76112324	HEK293	kidney:	embryo
2	chr13:76112274-76112324	T-47D	breast:	n/a
3	chr13:76112274-76112324	LNCaP	prostate:	n/a
4	chr13:76112274-76112324	HCPEpiC	choroid plexus:	n/a
5	chr13:76112274-76112324	ECC-1	luminal epithelium:	n/a
6	chr13:76112274-76112324	NHDF-neo	bronchial:	n/a
7	chr13:76112274-76112324	H1-hESC	embryonic stem cell:	embryo
8	chr13:76112274-76112324	HRPEpiC	eye:	n/a
9	chr13:76112274-76112324	AG04449	skin:	fetal
10	chr13:76112274-76112324	SAEC	small airway:	n/a
11	chr13:76112274-76112324	PFSK-1	brain:	n/a
12	chr13:76112274-76112324	HCT-116	colon:	n/a
13	chr13:76112274-76112324	GM12878	blood:	n/a
14	chr13:76112274-76112324	NHBE	bronchial:	n/a
15	chr13:76112274-76112324	RPTEC	kidney:	n/a
16	chr13:76112274-76112324	AG10803	skin:	n/a
17	chr13:76112274-76112324	MCF10A-Er-Src	breast:	n/a
18	chr13:76112274-76112324	Hepatocyte	liver:	n/a
19	chr13:76112274-76112324	MCF-7	breast:	n/a
20	chr13:76112274-76112324	PrEC	prostate:	n/a
21	chr13:76112274-76112324	AG04450	lung:	fetal
22	chr13:76112274-76112324	Caco-2	colon:	n/a
23	chr13:76112274-76112324	HCM	heart:	n/a
24	chr13:76112274-76112324	HL-60	blood:	n/a
25	chr13:76112274-76112324	K562	blood:	n/a
26	chr13:76112274-76112324	HAEpiC	amniotic membrane:	n/a
27	chr13:76112274-76112324	GM19239	blood:	n/a
28	chr13:76112274-76112324	NH-A	brain:	n/a
29	chr13:76112274-76112324	PANC-1	pancreas:	n/a
30	chr13:76112274-76112324	AG09309	skin:	n/a
31	chr13:76112274-76112324	BJ	skin:	n/a
32	chr13:76112274-76112324	SK-N-MC	brain:	n/a
33	chr13:76112274-76112324	NT2-D1	testis:	n/a
34	chr13:76112274-76112324	GM12891	blood:	n/a
35	chr13:76112274-76112324	HUVEC	blood vessel:	n/a
36	chr13:76112274-76112324	ProgFib	skin:	n/a
37	chr13:76112274-76112324	AoSMC	blood vessel:	n/a
38	chr13:76112274-76112324	SK-N-SH_RA	brain:	n/a
39	chr13:76112274-76112324	A549	lung:	n/a
40	chr13:76112274-76112324	HepG2	liver:	n/a
41	chr13:76112274-76112324	HIPEpiC	eye:	n/a
42	chr13:76112274-76112324	HCF	heart:	n/a
43	chr13:76112274-76112324	AG09319	gingival:	n/a
44	chr13:76112274-76112324	HEEpiC	esophagus:	n/a
45	chr13:76112274-76112324	HRE	kidney:	n/a
46	chr13:76112274-76112324	BE2_C	brain:	n/a
47	chr13:76112274-76112324	IMR90	lung:	fetal
48	chr13:76112274-76112324	HPAEpiC	pulmonary alveolar:	n/a
49	chr13:76112274-76112324	Jurkat	blood:	n/a
50	chr13:76112274-76112324	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:76111859..76112746-chr13:76123326..76123936,2	MCF-7	breast:
2	chr13:76102775..76109881-chr13:76110381..76113047,9	MCF-7	breast:
3	chr13:76055919..76057695-chr13:76110507..76112437,2	MCF-7	breast:
4	chr1:151253613..151254502-chr13:76111700..76112352,2	Hela-S3	cervix:
5	chr13:76111578..76112381-chrX:73511953..73512510,2	Hela-S3	cervix:
6	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
7	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:
8	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:

Variant related genes	Relation type
COMMD6	TF binding region
COMMD6	CpG island
ENSG00000136111	Chromatin interaction
ENSG00000230590	Chromatin interaction
ENSG00000118939	Chromatin interaction
ENSG00000261553	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000188243	Chromatin interaction
ENSG00000232671	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1041007	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1323695	1.00[YRI][hapmap]
rs4340196	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4884006	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4884007	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7334871	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3326553	chr13:76106251-76120849	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3346687	chr13:76106451-76115149	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3363843	chr13:76106551-76113949	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv14404	chr13:76107773-76119573	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1833250	chr13:76109534-76117768	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv442676	chr13:76109534-76117768	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2760289	chr13:76109536-76117768	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv514711	chr13:76111087-76115423	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2421984	chr13:76111280-76119506	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv525594	chr13:76111280-76119506	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv818980	chr13:76111280-76119506	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr13:76110400-76112800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr13:76110600-76112600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr13:76110800-76112400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr13:76110800-76112400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:76110800-76112600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr13:76110800-76112600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr13:76110800-76112600	Active TSS	Psoas Muscle	Psoas
8	chr13:76110800-76112600	Active TSS	NHDF-Ad	bronchial
9	chr13:76110800-76112800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:76110800-76112800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr13:76110800-76112800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr13:76110800-76112800	Active TSS	GM12878-XiMat	blood
13	chr13:76111000-76112400	Active TSS	Fetal Muscle Trunk	muscle
14	chr13:76111000-76112400	Active TSS	A549	lung
15	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:76111000-76112600	Active TSS	Right Ventricle	heart
18	chr13:76111000-76112800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:76111000-76112800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:76111000-76112800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr13:76111000-76112800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:76111000-76112800	Active TSS	Right Atrium	heart
23	chr13:76111200-76112400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr13:76111200-76112400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr13:76111200-76112400	Active TSS	Aorta	Aorta
26	chr13:76111200-76112400	Active TSS	Fetal Brain Female	brain
27	chr13:76111200-76112400	Active TSS	Fetal Stomach	stomach
28	chr13:76111200-76112400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr13:76111200-76112400	Active TSS	Stomach Mucosa	stomach
30	chr13:76111200-76112400	Active TSS	NHLF	lung
31	chr13:76111200-76112600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:76111200-76112600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:76111200-76112600	Active TSS	Brain Cingulate Gyrus	brain
34	chr13:76111200-76112600	Active TSS	Fetal Lung	lung
35	chr13:76111200-76112600	Active TSS	Fetal Muscle Leg	muscle
36	chr13:76111200-76112600	Active TSS	Ovary	ovary
37	chr13:76111200-76112600	Active TSS	Thymus	Thymus
38	chr13:76111200-76112600	Active TSS	HSMM	muscle
39	chr13:76111200-76112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr13:76111200-76112800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:76111200-76112800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr13:76111200-76112800	Active TSS	Fetal Heart	heart
43	chr13:76111200-76112800	Active TSS	Fetal Thymus	thymus
44	chr13:76111200-76112800	Active TSS	Stomach Smooth Muscle	stomach
45	chr13:76111200-76112800	Active TSS	K562	blood
46	chr13:76111400-76112400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr13:76111400-76112400	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr13:76111400-76112400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr13:76111400-76112400	Active TSS	Fetal Intestine Small	intestine
50	chr13:76111400-76112400	Active TSS	Pancreas	Pancrea

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