Variant report

Variant	rs192020742
Chromosome Location	chr13:79979814-79979815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr13:79979786-79980924	GM12891	blood:	n/a	chr13:79980352-79980372
2	PML	chr13:79978947-79981124	GM12878	blood:	n/a	n/a
3	TAF1	chr13:79979761-79979981	SK-N-SH	brain:	n/a	n/a
4	BCLAF1	chr13:79979128-79980953	GM12878	blood:	n/a	n/a
5	POLR2A	chr13:79979701-79980964	HCT-116	colon:	n/a	n/a
6	POLR2A	chr13:79979774-79980839	ProgFib	skin:	n/a	n/a
7	POLR2A	chr13:79979710-79980873	GM10847	blood:	n/a	n/a
8	TAF1	chr13:79979673-79980925	ECC-1	luminal epithelium:	n/a	n/a
9	YY1	chr13:79979704-79980753	HepG2	liver:	n/a	chr13:79980352-79980372
10	POLR2A	chr13:79979203-79981108	HL-60	blood:	n/a	n/a
11	POLR2A	chr13:79979807-79980907	A549	lung:	n/a	n/a
12	EGR1	chr13:79979698-79980160	K562	blood:	n/a	chr13:79979977-79979991 chr13:79979931-79979945
13	TAF1	chr13:79979690-79980993	GM12878	blood:	n/a	n/a
14	EGR1	chr13:79979804-79980151	K562	blood:	n/a	chr13:79979977-79979991 chr13:79979931-79979945
15	HEY1	chr13:79979678-79980918	HepG2	liver:	n/a	n/a
16	MAZ	chr13:79979356-79980973	K562	blood:	n/a	n/a
17	POLR2A	chr13:79979198-79981065	GM18505	blood:	n/a	n/a
18	RUNX3	chr13:79979065-79979979	GM12878	blood:	n/a	chr13:79979193-79979208
19	POLR2A	chr13:79979102-79981045	GM12891	blood:	n/a	n/a
20	MAX	chr13:79979771-79981007	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr13:79979302-79980867	K562	blood:	n/a	n/a
22	POLR2A	chr13:79978999-79980991	GM18951	blood:	n/a	n/a
23	POLR2A	chr13:79979713-79980793	MCF-7	breast:	n/a	n/a
24	HA-E2F1	chr13:79979688-79981007	MCF-7	breast:	n/a	n/a
25	POLR2A	chr13:79979187-79981051	HepG2	liver:	n/a	n/a
26	POLR2A	chr13:79979733-79980931	K562	blood:	n/a	n/a
27	POLR2A	chr13:79979195-79981340	GM12878	blood:	n/a	n/a
28	POLR2A	chr13:79979031-79981704	HepG2	liver:	n/a	n/a
29	MYC	chr13:79979202-79981041	K562	blood:	n/a	n/a
30	POLR2A	chr13:79979159-79981096	GM12878	blood:	n/a	n/a
31	ELK1	chr13:79979318-79979816	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr13:79979763-79980899	K562	blood:	n/a	n/a
33	MAX	chr13:79979197-79980960	Hela-S3	cervix:	n/a	n/a
34	MAX	chr13:79979197-79980958	HepG2	liver:	n/a	n/a
35	TAF1	chr13:79979803-79981035	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr13:79979260-79981000	K562	blood:	n/a	n/a
37	POLR2A	chr13:79979632-79980009	SK-N-SH	brain:	n/a	n/a
38	BRCA1	chr13:79979671-79979821	HepG2	liver:	n/a	n/a
39	TBP	chr13:79979213-79981049	HepG2	liver:	n/a	n/a
40	POLR2A	chr13:79979193-79981187	IMR90	lung:	n/a	n/a
41	POLR2A	chr13:79979619-79980990	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr13:79979740-79979890	GM12871	blood:	n/a	n/a
43	POLR2A	chr13:79979039-79981111	GM12892	blood:	n/a	n/a
44	RELA	chr13:79979786-79981008	GM19099	blood:	n/a	n/a
45	POLR2A	chr13:79979115-79981057	GM12891	blood:	n/a	n/a
46	POLR2A	chr13:79979533-79981093	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
48	ATF2	chr13:79979807-79980965	GM12878	blood:	n/a	n/a
49	POLR2A	chr13:79979599-79980991	GM12878	blood:	n/a	n/a
50	POLR2A	chr13:79979334-79981055	NB4	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:79962105..79964858-chr13:79978684..79980490,2	K562	blood:
2	chr13:79979196..79982246-chr13:80054691..80057070,3	MCF-7	breast:
3	chr1:155903781..155904364-chr13:79979342..79980186,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RBM26-AS1	TF binding region
ENSG00000252496	Chromatin interaction
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction
ENSG00000132680	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3336073	chr13:79979151-79981199	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
4	chr13:79977200-79980000	Active TSS	Right Atrium	heart
5	chr13:79977400-79980800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:79977400-79981400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr13:79977800-79981200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr13:79977800-79981200	Active TSS	Fetal Intestine Small	intestine
9	chr13:79978000-79981000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr13:79978000-79981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr13:79978000-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:79978000-79981600	Active TSS	Colonic Mucosa	Colon
13	chr13:79978200-79981600	Active TSS	A549	lung
14	chr13:79978400-79981000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:79978400-79981200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:79978400-79981200	Active TSS	Right Ventricle	heart
17	chr13:79978400-79981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:79978400-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:79978600-79980800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:79978600-79981000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:79978600-79981000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr13:79978600-79981000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:79978600-79981000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:79978600-79981000	Active TSS	Fetal Intestine Large	intestine
25	chr13:79978600-79981000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr13:79978600-79981000	Active TSS	Hela-S3	cervix
27	chr13:79978600-79981200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr13:79978600-79981200	Active TSS	Fetal Muscle Trunk	muscle
29	chr13:79978600-79981400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr13:79978600-79981400	Active TSS	NHLF	lung
31	chr13:79978800-79980600	Active TSS	Pancreas	Pancrea
32	chr13:79978800-79980800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:79978800-79980800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr13:79978800-79980800	Active TSS	NH-A	brain
35	chr13:79978800-79980800	Active TSS	NHDF-Ad	bronchial
36	chr13:79978800-79981000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:79978800-79981000	Active TSS	Aorta	Aorta
38	chr13:79978800-79981000	Active TSS	Colon Smooth Muscle	Colon
39	chr13:79978800-79981000	Active TSS	Fetal Brain Female	brain
40	chr13:79978800-79981000	Active TSS	Fetal Kidney	kidney
41	chr13:79978800-79981000	Active TSS	Gastric	stomach
42	chr13:79978800-79981000	Active TSS	Left Ventricle	heart
43	chr13:79978800-79981000	Active TSS	Ovary	ovary
44	chr13:79978800-79981000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr13:79978800-79981000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr13:79978800-79981200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr13:79978800-79981200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr13:79978800-79981200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:79978800-79981200	Active TSS	Brain Germinal Matrix	brain
50	chr13:79978800-79981200	Active TSS	Fetal Muscle Leg	muscle

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