Variant report

Variant	rs200147107
Chromosome Location	chr13:76112035-76112036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:477)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	POLR2A	chr13:76111625-76112166	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr13:76111920-76112070	HMEC	breast:	n/a	n/a
4	CTCF	chr13:76111920-76112070	HCT-116	colon:	n/a	n/a
5	MAX	chr13:76111431-76112733	HepG2	liver:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
6	POLR2A	chr13:76111596-76112053	HepG2	liver:	n/a	n/a
7	YY1	chr13:76111798-76112099	K562	blood:	n/a	n/a
8	SIN3A	chr13:76111417-76112539	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr13:76111940-76112090	NHLF	lung:	n/a	n/a
10	MYC	chr13:76111405-76112641	NB4	blood:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
11	POLR2A	chr13:76111706-76112437	IMR90	lung:	n/a	n/a
12	UBTF	chr13:76111471-76112399	K562	blood:	n/a	n/a
13	ELF1	chr13:76111499-76112586	HCT-116	colon:	n/a	chr13:76112406-76112418 chr13:76111993-76112006
14	FOXP2	chr13:76111779-76112067	PFSK-1	brain:	n/a	n/a
15	GABPA	chr13:76111701-76112254	K562	blood:	n/a	chr13:76111997-76112004
16	POLR2A	chr13:76111736-76112056	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr13:76111920-76112070	HVMF	connective:	n/a	n/a
18	CTCF	chr13:76111900-76112050	HPAF	blood vessel:	n/a	n/a
19	RCOR1	chr13:76111557-76112528	Hela-S3	cervix:	n/a	n/a
20	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
21	SIN3AK20	chr13:76111773-76112079	PANC-1	pancreas:	n/a	n/a
22	EBF1	chr13:76111568-76112064	GM12878	blood:	n/a	n/a
23	RCOR1	chr13:76111505-76112622	K562	blood:	n/a	n/a
24	CTCF	chr13:76111960-76112110	BJ	skin:	n/a	n/a
25	CTCF	chr13:76111960-76112110	GM12867	blood:	n/a	n/a
26	MYC	chr13:76111563-76112637	MCF10A-Er-Src	breast:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
27	TBP	chr13:76111388-76112586	Hela-S3	cervix:	n/a	n/a
28	STAT5A	chr13:76111730-76112509	GM12878	blood:	n/a	n/a
29	HA-E2F1	chr13:76111664-76112541	MCF-7	breast:	n/a	n/a
30	TEAD4	chr13:76111807-76112255	K562	blood:	n/a	n/a
31	CTCF	chr13:76112000-76112150	HBMEC	blood vessel:	n/a	n/a
32	CHD1	chr13:76111515-76112632	GM12878	blood:	n/a	n/a
33	POU2F2	chr13:76111707-76112092	GM12891	blood:	n/a	n/a
34	CREB1	chr13:76111842-76112398	A549	lung:	n/a	n/a
35	TCF12	chr13:76111584-76112595	ECC-1	luminal epithelium:	n/a	n/a
36	ELK4	chr13:76111528-76112313	Hela-S3	cervix:	n/a	chr13:76111992-76112003
37	CTCF	chr13:76111940-76112090	Caco-2	colon:	n/a	n/a
38	IRF1	chr13:76111584-76112527	K562	blood:	n/a	chr13:76112253-76112267 chr13:76111812-76111832 chr13:76112076-76112085 chr13:76112408-76112422
39	POLR2A	chr13:76111347-76112497	PBDE	blood:	n/a	n/a
40	ELF1	chr13:76111808-76112412	A549	lung:	n/a	chr13:76111993-76112006
41	MYC	chr13:76111637-76112048	MCF-7	breast:	n/a	n/a
42	CTCF	chr13:76111940-76112090	HCPEpiC	choroid plexus:	n/a	n/a
43	YY1	chr13:76111646-76112094	GM12878	blood:	n/a	n/a
44	POLR2A	chr13:76111591-76112063	Hela-S3	cervix:	n/a	n/a
45	SIN3AK20	chr13:76111734-76112098	K562	blood:	n/a	n/a
46	POLR2A	chr13:76111806-76112055	A549	lung:	n/a	n/a
47	ARID3A	chr13:76111988-76112275	K562	blood:	n/a	n/a
48	CHD2	chr13:76111795-76112421	K562	blood:	n/a	n/a
49	MAFK	chr13:76112019-76112231	K562	blood:	n/a	n/a
50	RAD21	chr13:76111700-76112078	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76112030-76112080	HMEC	breast:	n/a
2	chr13:76112030-76112080	AG09309	skin:	n/a
3	chr13:76112030-76112080	HepG2	liver:	n/a
4	chr13:76112030-76112080	HRPEpiC	eye:	n/a
5	chr13:76112030-76112080	GM12878	blood:	n/a
6	chr13:76112030-76112080	LNCaP	prostate:	n/a
7	chr13:76112030-76112080	AoSMC	blood vessel:	n/a
8	chr13:76112030-76112080	PANC-1	pancreas:	n/a
9	chr13:76112030-76112080	MCF-7	breast:	n/a
10	chr13:76112030-76112080	AG10803	skin:	n/a
11	chr13:76112030-76112080	IMR90	lung:	fetal
12	chr13:76112030-76112080	HNPCEpiC	eye:	n/a
13	chr13:76112030-76112080	HRE	kidney:	n/a
14	chr13:76112030-76112080	BJ	skin:	n/a
15	chr13:76112030-76112080	NHBE	bronchial:	n/a
16	chr13:76112030-76112080	GM19239	blood:	n/a
17	chr13:76112030-76112080	PFSK-1	brain:	n/a
18	chr13:76112030-76112080	HL-60	blood:	n/a
19	chr13:76112030-76112080	HAEpiC	amniotic membrane:	n/a
20	chr13:76112030-76112080	HUVEC	blood vessel:	n/a
21	chr13:76112030-76112080	U87	brain:	n/a
22	chr13:76112030-76112080	AG04450	lung:	fetal
23	chr13:76112030-76112080	K562	blood:	n/a
24	chr13:76112030-76112080	A549	lung:	n/a
25	chr13:76112030-76112080	HIPEpiC	eye:	n/a
26	chr13:76112030-76112080	Caco-2	colon:	n/a
27	chr13:76112030-76112080	Jurkat	blood:	n/a
28	chr13:76112030-76112080	SAEC	small airway:	n/a
29	chr13:76112030-76112080	H1-hESC	embryonic stem cell:	embryo
30	chr13:76112030-76112080	RPTEC	kidney:	n/a
31	chr13:76112030-76112080	ECC-1	luminal epithelium:	n/a
32	chr13:76112030-76112080	HCF	heart:	n/a
33	chr13:76112030-76112080	ovcar-3	ovarian:	n/a
34	chr13:76112030-76112080	HPAEpiC	pulmonary alveolar:	n/a
35	chr13:76112030-76112080	MCF10A-Er-Src	breast:	n/a
36	chr13:76112030-76112080	BE2_C	brain:	n/a
37	chr13:76112030-76112080	T-47D	breast:	n/a
38	chr13:76112030-76112080	SK-N-SH	brain:	n/a
39	chr13:76112030-76112080	NT2-D1	testis:	n/a
40	chr13:76112030-76112080	ProgFib	skin:	n/a
41	chr13:76112030-76112080	Hela-S3	cervix:	n/a
42	chr13:76112030-76112080	HCT-116	colon:	n/a
43	chr13:76112030-76112080	HCM	heart:	n/a
44	chr13:76112030-76112080	NH-A	brain:	n/a
45	chr13:76112030-76112080	HEK293	kidney:	embryo
46	chr13:76112030-76112080	NHDF-neo	bronchial:	n/a
47	chr13:76112030-76112080	GM06990	blood:	n/a
48	chr13:76112030-76112080	CMK	blood:	n/a
49	chr13:76112030-76112080	SKMC	muscle:	n/a
50	chr13:76112030-76112080	GM12892	blood:	n/a

(count:9 , 50 per page) page: 1

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	chr13:76111404..76112078-chr17:26989037..26989702,2	Hela-S3	cervix:
9	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:

No data

Variant related genes	Relation type
COMMD6	TF binding region
COMMD6	CpG island
ENSG00000136111	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000118939	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000188243	Chromatin interaction
ENSG00000261553	Chromatin interaction
ENSG00000230590	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	chr13:76111000-76112200	Active TSS	Colonic Mucosa	Colon
14	chr13:76111000-76112400	Active TSS	Fetal Muscle Trunk	muscle
15	chr13:76111000-76112400	Active TSS	A549	lung
16	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:76111000-76112600	Active TSS	Right Ventricle	heart
19	chr13:76111000-76112800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:76111000-76112800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:76111000-76112800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr13:76111000-76112800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:76111000-76112800	Active TSS	Right Atrium	heart
24	chr13:76111200-76112200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:76111200-76112200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:76111200-76112200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:76111200-76112200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:76111200-76112200	Active TSS	HMEC	breast
29	chr13:76111200-76112200	Active TSS	NH-A	brain
30	chr13:76111200-76112400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr13:76111200-76112400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr13:76111200-76112400	Active TSS	Aorta	Aorta
33	chr13:76111200-76112400	Active TSS	Fetal Brain Female	brain
34	chr13:76111200-76112400	Active TSS	Fetal Stomach	stomach
35	chr13:76111200-76112400	Active TSS	Placenta Amnion	Placenta Amnion
36	chr13:76111200-76112400	Active TSS	Stomach Mucosa	stomach
37	chr13:76111200-76112400	Active TSS	NHLF	lung
38	chr13:76111200-76112600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:76111200-76112600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:76111200-76112600	Active TSS	Brain Cingulate Gyrus	brain
41	chr13:76111200-76112600	Active TSS	Fetal Lung	lung
42	chr13:76111200-76112600	Active TSS	Fetal Muscle Leg	muscle
43	chr13:76111200-76112600	Active TSS	Ovary	ovary
44	chr13:76111200-76112600	Active TSS	Thymus	Thymus
45	chr13:76111200-76112600	Active TSS	HSMM	muscle
46	chr13:76111200-76112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr13:76111200-76112800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:76111200-76112800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr13:76111200-76112800	Active TSS	Fetal Heart	heart
50	chr13:76111200-76112800	Active TSS	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links