Variant report

Variant	rs568146726
Chromosome Location	chr13:96706207-96706208
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:96704954-96706214	GM19099	blood:	n/a	n/a
2	MAX	chr13:96704997-96706254	A549	lung:	n/a	n/a
3	CHD2	chr13:96705624-96706308	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr13:96705371-96706230	HCT-116	colon:	n/a	n/a
5	MAX	chr13:96704872-96706271	HCT-116	colon:	n/a	n/a
6	TCF7L2	chr13:96705164-96706293	HCT-116	colon:	n/a	n/a
7	POLR2A	chr13:96705277-96706234	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr13:96704770-96706282	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr13:96705278-96706286	MCF-7	breast:	n/a	n/a
10	HMGN3	chr13:96705122-96706269	K562	blood:	n/a	n/a
11	BRCA1	chr13:96705537-96706241	Hela-S3	cervix:	n/a	n/a
12	TCF12	chr13:96705275-96706272	ECC-1	luminal epithelium:	n/a	n/a
13	ELF1	chr13:96705113-96706256	HCT-116	colon:	n/a	chr13:96705658-96705671
14	MAX	chr13:96705252-96706266	ECC-1	luminal epithelium:	n/a	n/a
15	ZEB1	chr13:96705530-96706228	GM12878	blood:	n/a	n/a
16	POLR2A	chr13:96705368-96706233	HCT-116	colon:	n/a	n/a
17	POLR2A	chr13:96705422-96706214	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr13:96705239-96706276	MCF-7	breast:	n/a	n/a
19	CHD2	chr13:96705473-96706236	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr13:96704938-96706302	GM12892	blood:	n/a	n/a
21	POLR2A	chr13:96705326-96706245	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr13:96704906-96706225	HCT-116	colon:	n/a	n/a
23	POLR2A	chr13:96704655-96706295	IMR90	lung:	n/a	n/a
24	TBP	chr13:96705500-96706279	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr13:96705192-96706254	MCF-7	breast:	n/a	n/a
26	TAF1	chr13:96705322-96706255	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr13:96705292-96706262	ECC-1	luminal epithelium:	n/a	n/a
28	BRCA1	chr13:96705964-96706299	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr13:96705237-96706233	ECC-1	luminal epithelium:	n/a	n/a
30	E2F6	chr13:96705235-96706276	H1-hESC	embryonic stem cell:	n/a	chr13:96705637-96705648 chr13:96705903-96705915 chr13:96705802-96705812 chr13:96705711-96705720
31	POLR2A	chr13:96705252-96706249	MCF-7	breast:	n/a	n/a
32	SIN3AK20	chr13:96704890-96706268	HCT-116	colon:	n/a	n/a
33	POLR2A	chr13:96706176-96706230	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr13:96704830-96706295	MCF10A-Er-Src	breast:	n/a	n/a
35	MXI1	chr13:96704711-96706210	SK-N-SH	brain:	n/a	chr13:96704804-96704819
36	POLR2A	chr13:96704935-96706294	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr13:96705420-96706217	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96705694..96707387-chr13:96740919..96743720,3	MCF-7	breast:
2	chr13:96705761..96707656-chr13:96724280..96725801,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGGT2	TF binding region
ENSG00000185352	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869471	chr13:96622327-97223956	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv530390	chr13:96681439-97193029	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv900936	chr13:96697209-97032483	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3390792	chr13:96705451-96707499	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96704000-96706400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:96704200-96707000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:96704400-96707200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr13:96704600-96706400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:96704600-96706400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr13:96704600-96706400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr13:96704600-96706600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr13:96704600-96706600	Active TSS	HMEC	breast
9	chr13:96704600-96706600	Active TSS	NHEK	skin
10	chr13:96704600-96706800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr13:96704800-96706400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:96704800-96706400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:96704800-96706400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr13:96704800-96706400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:96704800-96706400	Active TSS	Colonic Mucosa	Colon
16	chr13:96704800-96706400	Active TSS	Fetal Intestine Large	intestine
17	chr13:96704800-96706400	Active TSS	Fetal Intestine Small	intestine
18	chr13:96704800-96706800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr13:96705000-96706400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:96705000-96706400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr13:96705000-96706400	Active TSS	Esophagus	oesophagus
22	chr13:96705000-96706400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr13:96705000-96706400	Active TSS	Left Ventricle	heart
24	chr13:96705000-96706400	Active TSS	Pancreas	Pancrea
25	chr13:96705200-96706400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:96705200-96706400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:96705200-96706400	Active TSS	Fetal Muscle Leg	muscle
28	chr13:96705200-96706400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr13:96705400-96706400	Active TSS	Adipose Nuclei	Adipose
30	chr13:96705600-96706400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:96705600-96706400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:96705600-96706400	Active TSS	Fetal Brain Female	brain
33	chr13:96706000-96706400	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr13:96706000-96706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr13:96706000-96708200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:96706200-96706400	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr13:96706200-96706400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:96706200-96706400	Active TSS	Placenta	Placenta
39	chr13:96706200-96706600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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