Variant report

Variant	rs370887966
Chromosome Location	chr13:76111991-76111992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:494)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:494 , 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	HDAC2	chr13:76111596-76112034	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr13:76111920-76112070	HMEC	breast:	n/a	n/a
5	CTCF	chr13:76111880-76112030	GM12873	blood:	n/a	n/a
6	CTCF	chr13:76111920-76112070	HCT-116	colon:	n/a	n/a
7	MAX	chr13:76111431-76112733	HepG2	liver:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
8	POLR2A	chr13:76111596-76112053	HepG2	liver:	n/a	n/a
9	YY1	chr13:76111798-76112099	K562	blood:	n/a	n/a
10	SIN3A	chr13:76111417-76112539	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr13:76111940-76112090	NHLF	lung:	n/a	n/a
12	MYC	chr13:76111405-76112641	NB4	blood:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
13	POLR2A	chr13:76111706-76112437	IMR90	lung:	n/a	n/a
14	UBTF	chr13:76111471-76112399	K562	blood:	n/a	n/a
15	ELF1	chr13:76111499-76112586	HCT-116	colon:	n/a	chr13:76112406-76112418 chr13:76111993-76112006
16	FOXP2	chr13:76111779-76112067	PFSK-1	brain:	n/a	n/a
17	GABPA	chr13:76111701-76112254	K562	blood:	n/a	chr13:76111997-76112004
18	POLR2A	chr13:76111736-76112056	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr13:76111920-76112070	HVMF	connective:	n/a	n/a
20	CTCF	chr13:76111900-76112050	HPAF	blood vessel:	n/a	n/a
21	RCOR1	chr13:76111557-76112528	Hela-S3	cervix:	n/a	n/a
22	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
23	SIN3AK20	chr13:76111773-76112079	PANC-1	pancreas:	n/a	n/a
24	EBF1	chr13:76111568-76112064	GM12878	blood:	n/a	n/a
25	RCOR1	chr13:76111505-76112622	K562	blood:	n/a	n/a
26	CTCF	chr13:76111960-76112110	BJ	skin:	n/a	n/a
27	CTCF	chr13:76111960-76112110	GM12867	blood:	n/a	n/a
28	MYC	chr13:76111563-76112637	MCF10A-Er-Src	breast:	n/a	chr13:76112223-76112242 chr13:76112409-76112419
29	TBP	chr13:76111388-76112586	Hela-S3	cervix:	n/a	n/a
30	STAT5A	chr13:76111730-76112509	GM12878	blood:	n/a	n/a
31	HA-E2F1	chr13:76111664-76112541	MCF-7	breast:	n/a	n/a
32	TEAD4	chr13:76111807-76112255	K562	blood:	n/a	n/a
33	CHD1	chr13:76111515-76112632	GM12878	blood:	n/a	n/a
34	POU2F2	chr13:76111707-76112092	GM12891	blood:	n/a	n/a
35	CREB1	chr13:76111842-76112398	A549	lung:	n/a	n/a
36	TCF12	chr13:76111584-76112595	ECC-1	luminal epithelium:	n/a	n/a
37	ELK4	chr13:76111528-76112313	Hela-S3	cervix:	n/a	chr13:76111992-76112003
38	CTCF	chr13:76111940-76112090	Caco-2	colon:	n/a	n/a
39	IRF1	chr13:76111584-76112527	K562	blood:	n/a	chr13:76112253-76112267 chr13:76111812-76111832 chr13:76112076-76112085 chr13:76112408-76112422
40	POLR2A	chr13:76111347-76112497	PBDE	blood:	n/a	n/a
41	ELF1	chr13:76111808-76112412	A549	lung:	n/a	chr13:76111993-76112006
42	MYC	chr13:76111637-76112048	MCF-7	breast:	n/a	n/a
43	CTCF	chr13:76111940-76112090	HCPEpiC	choroid plexus:	n/a	n/a
44	YY1	chr13:76111646-76112094	GM12878	blood:	n/a	n/a
45	POLR2A	chr13:76111591-76112063	Hela-S3	cervix:	n/a	n/a
46	SIN3AK20	chr13:76111734-76112098	K562	blood:	n/a	n/a
47	POLR2A	chr13:76111806-76112055	A549	lung:	n/a	n/a
48	ARID3A	chr13:76111988-76112275	K562	blood:	n/a	n/a
49	CTCF	chr13:76111880-76112030	HepG2	liver:	n/a	n/a
50	CHD2	chr13:76111795-76112421	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76111980-76112030	HCT-116	colon:	n/a
2	chr13:76111980-76112030	HMEC	breast:	n/a
3	chr13:76111980-76112030	GM06990	blood:	n/a
4	chr13:76111980-76112030	MCF-7	breast:	n/a
5	chr13:76111980-76112030	HEK293	kidney:	embryo
6	chr13:76111980-76112030	SK-N-SH	brain:	n/a
7	chr13:76111980-76112030	AG04449	skin:	fetal
8	chr13:76111980-76112030	AG10803	skin:	n/a
9	chr13:76111980-76112030	ECC-1	luminal epithelium:	n/a
10	chr13:76111980-76112030	PFSK-1	brain:	n/a
11	chr13:76111980-76112030	GM12878	blood:	n/a
12	chr13:76111980-76112030	HIPEpiC	eye:	n/a
13	chr13:76111980-76112030	SK-N-MC	brain:	n/a
14	chr13:76111980-76112030	ovcar-3	ovarian:	n/a
15	chr13:76111980-76112030	NB4	blood:	n/a
16	chr13:76111980-76112030	LNCaP	prostate:	n/a
17	chr13:76111980-76112030	HRCEpiC	kidney:	n/a
18	chr13:76111980-76112030	NHDF-neo	bronchial:	n/a
19	chr13:76111980-76112030	HL-60	blood:	n/a
20	chr13:76111980-76112030	SKMC	muscle:	n/a
21	chr13:76111980-76112030	NHBE	bronchial:	n/a
22	chr13:76111980-76112030	IMR90	lung:	fetal
23	chr13:76111980-76112030	AG09309	skin:	n/a
24	chr13:76111980-76112030	HAEpiC	amniotic membrane:	n/a
25	chr13:76111980-76112030	K562	blood:	n/a
26	chr13:76111980-76112030	H1-hESC	embryonic stem cell:	embryo
27	chr13:76111980-76112030	HRE	kidney:	n/a
28	chr13:76111980-76112030	GM19239	blood:	n/a
29	chr13:76111980-76112030	ProgFib	skin:	n/a
30	chr13:76111980-76112030	HRPEpiC	eye:	n/a
31	chr13:76111980-76112030	AoSMC	blood vessel:	n/a
32	chr13:76111980-76112030	Jurkat	blood:	n/a
33	chr13:76111980-76112030	GM12891	blood:	n/a
34	chr13:76111980-76112030	HEEpiC	esophagus:	n/a
35	chr13:76111980-76112030	Hela-S3	cervix:	n/a
36	chr13:76111980-76112030	HCPEpiC	choroid plexus:	n/a
37	chr13:76111980-76112030	T-47D	breast:	n/a
38	chr13:76111980-76112030	HUVEC	blood vessel:	n/a
39	chr13:76111980-76112030	CMK	blood:	n/a
40	chr13:76111980-76112030	PANC-1	pancreas:	n/a
41	chr13:76111980-76112030	Caco-2	colon:	n/a
42	chr13:76111980-76112030	HPAEpiC	pulmonary alveolar:	n/a
43	chr13:76111980-76112030	HepG2	liver:	n/a
44	chr13:76111980-76112030	AG04450	lung:	fetal
45	chr13:76111980-76112030	SK-N-SH_RA	brain:	n/a
46	chr13:76111980-76112030	A549	lung:	n/a
47	chr13:76111980-76112030	RPTEC	kidney:	n/a
48	chr13:76111980-76112030	PrEC	prostate:	n/a
49	chr13:76111980-76112030	NT2-D1	testis:	n/a
50	chr13:76111980-76112030	GM12892	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65339613..65340413-chr13:76111532..76112034,2	NB4	blood:
2	chr13:76111859..76112746-chr13:76123326..76123936,2	MCF-7	breast:
3	chr13:76102775..76109881-chr13:76110381..76113047,9	MCF-7	breast:
4	chr13:76055919..76057695-chr13:76110507..76112437,2	MCF-7	breast:
5	chr1:151253613..151254502-chr13:76111700..76112352,2	Hela-S3	cervix:
6	chr13:76111578..76112381-chrX:73511953..73512510,2	Hela-S3	cervix:
7	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
8	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:
9	chr13:76111404..76112078-chr17:26989037..26989702,2	Hela-S3	cervix:
10	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:

No data

Variant related genes	Relation type
COMMD6	TF binding region
COMMD6	CpG island
ENSG00000230590	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000136111	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000118939	Chromatin interaction
ENSG00000188243	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000261553	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:127 , 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	chr13:76111000-76112000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:76111000-76112200	Active TSS	Colonic Mucosa	Colon
15	chr13:76111000-76112400	Active TSS	Fetal Muscle Trunk	muscle
16	chr13:76111000-76112400	Active TSS	A549	lung
17	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:76111000-76112600	Active TSS	Right Ventricle	heart
20	chr13:76111000-76112800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:76111000-76112800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:76111000-76112800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr13:76111000-76112800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76111000-76112800	Active TSS	Right Atrium	heart
25	chr13:76111200-76112200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:76111200-76112200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:76111200-76112200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:76111200-76112200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76111200-76112200	Active TSS	HMEC	breast
30	chr13:76111200-76112200	Active TSS	NH-A	brain
31	chr13:76111200-76112400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr13:76111200-76112400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr13:76111200-76112400	Active TSS	Aorta	Aorta
34	chr13:76111200-76112400	Active TSS	Fetal Brain Female	brain
35	chr13:76111200-76112400	Active TSS	Fetal Stomach	stomach
36	chr13:76111200-76112400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr13:76111200-76112400	Active TSS	Stomach Mucosa	stomach
38	chr13:76111200-76112400	Active TSS	NHLF	lung
39	chr13:76111200-76112600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:76111200-76112600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:76111200-76112600	Active TSS	Brain Cingulate Gyrus	brain
42	chr13:76111200-76112600	Active TSS	Fetal Lung	lung
43	chr13:76111200-76112600	Active TSS	Fetal Muscle Leg	muscle
44	chr13:76111200-76112600	Active TSS	Ovary	ovary
45	chr13:76111200-76112600	Active TSS	Thymus	Thymus
46	chr13:76111200-76112600	Active TSS	HSMM	muscle
47	chr13:76111200-76112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr13:76111200-76112800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:76111200-76112800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr13:76111200-76112800	Active TSS	Fetal Heart	heart

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