Variant report

Variant	rs562557285
Chromosome Location	chr6:13814025-13814026
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:235)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:235 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:13813818-13814953	H1-hESC	embryonic stem cell:	n/a	chr6:13813983-13814001
2	POLR2A	chr6:13813812-13815677	K562	blood:	n/a	n/a
3	POLR2A	chr6:13813724-13815318	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr6:13813736-13815574	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:13813793-13815138	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr6:13813765-13815165	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr6:13813877-13815089	K562	blood:	n/a	n/a
8	ETS1	chr6:13813844-13814793	K562	blood:	n/a	n/a
9	E2F4	chr6:13813838-13815077	K562	blood:	n/a	chr6:13814227-13814239
10	YY1	chr6:13814011-13815128	K562	blood:	n/a	chr6:13814060-13814074
11	POLR2A	chr6:13813849-13815215	HEK293	kidney:	n/a	n/a
12	TEAD4	chr6:13813753-13814714	ECC-1	luminal epithelium:	n/a	n/a
13	MXI1	chr6:13813672-13815550	IMR90	lung:	n/a	n/a
14	RCOR1	chr6:13813947-13815047	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr6:13813682-13815419	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:13813829-13815322	MCF-7	breast:	n/a	n/a
17	BHLHE40	chr6:13813776-13815189	K562	blood:	n/a	n/a
18	MAX	chr6:13813703-13815311	HepG2	liver:	n/a	n/a
19	MAX	chr6:13813826-13815025	HepG2	liver:	n/a	n/a
20	USF1	chr6:13813810-13814996	HCT-116	colon:	n/a	chr6:13814463-13814474
21	POLR2A	chr6:13813863-13815675	K562	blood:	n/a	n/a
22	ZNF143	chr6:13813896-13815261	GM12878	blood:	n/a	chr6:13813983-13814001
23	E2F4	chr6:13813867-13814163	MCF10A-Er-Src	breast:	n/a	n/a
24	ETS1	chr6:13813843-13814794	K562	blood:	n/a	n/a
25	POLR2A	chr6:13813843-13815677	MCF10A-Er-Src	breast:	n/a	n/a
26	GTF2F1	chr6:13813926-13814027	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr6:13813810-13815370	NB4	blood:	n/a	n/a
28	MAZ	chr6:13813284-13815235	IMR90	lung:	n/a	n/a
29	POLR2A	chr6:13813853-13815131	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:13813781-13815098	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr6:13813756-13815240	Hela-S3	cervix:	n/a	n/a
32	CCNT2	chr6:13813927-13815184	K562	blood:	n/a	chr6:13814891-13814900
33	TAF1	chr6:13813796-13814171	Hela-S3	cervix:	n/a	n/a
34	SIN3A	chr6:13813701-13815215	H1-hESC	embryonic stem cell:	n/a	n/a
35	HDAC2	chr6:13813776-13815035	HepG2	liver:	n/a	n/a
36	MAX	chr6:13813763-13815229	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr6:13813968-13815146	GM12878	blood:	n/a	n/a
38	GABPA	chr6:13813855-13815046	K562	blood:	n/a	n/a
39	TEAD4	chr6:13813823-13814828	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:13814011-13815393	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:13813796-13815129	H1-hESC	embryonic stem cell:	n/a	n/a
42	TBP	chr6:13813791-13815309	K562	blood:	n/a	chr6:13815149-13815160
43	RUNX3	chr6:13813828-13814086	GM12878	blood:	n/a	n/a
44	RFX5	chr6:13813811-13815113	Hela-S3	cervix:	n/a	n/a
45	MYC	chr6:13813844-13815669	K562	blood:	n/a	n/a
46	E2F6	chr6:13813870-13815035	K562	blood:	n/a	chr6:13814227-13814239
47	POLR2A	chr6:13813745-13815017	HUVEC	blood vessel:	n/a	n/a
48	REST	chr6:13813689-13815099	H1-neurons	neurons:	n/a	n/a
49	TAF1	chr6:13813935-13815216	K562	blood:	n/a	n/a
50	ZBTB7A	chr6:13813739-13814707	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
2	chr6:13709898..13714007-chr6:13809605..13814723,8	K562	blood:
3	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
4	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
5	chr6:13811882..13817297-chr6:13824102..13828307,6	K562	blood:
6	chr6:13813751..13814556-chr6:14144563..14145068,2	K562	blood:
7	chr1:249120244..249120977-chr6:13813975..13814922,2	Hela-S3	cervix:
8	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
9	chr6:13812222..13814493-chr6:13862660..13864603,2	MCF-7	breast:
10	chr6:13572890..13574981-chr6:13813241..13814788,2	K562	blood:
11	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233075	TF binding region
ENSG00000264500	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000272209	Chromatin interaction
ENSG00000175137	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000010017	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374707	chr6:13813498-13816346	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 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	chr6:13811400-13815000	Active TSS	GM12878-XiMat	blood
2	chr6:13813200-13814200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:13813200-13814200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:13813200-13814200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr6:13813200-13815200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:13813200-13815400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:13813200-13815400	Active TSS	A549	lung
8	chr6:13813200-13815600	Active TSS	HSMMtube	muscle
9	chr6:13813400-13814200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr6:13813400-13814200	Active TSS	Right Atrium	heart
11	chr6:13813400-13815000	Active TSS	Placenta	Placenta
12	chr6:13813400-13815000	Active TSS	Rectal Smooth Muscle	rectum
13	chr6:13813400-13815200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:13813400-13815200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:13813400-13815200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:13813400-13815200	Active TSS	Fetal Kidney	kidney
17	chr6:13813400-13815200	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:13813400-13815200	Active TSS	NHLF	lung
19	chr6:13813400-13815400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr6:13813400-13815400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:13813400-13815400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:13813400-13815400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:13813400-13815400	Active TSS	Brain Cingulate Gyrus	brain
26	chr6:13813400-13815400	Active TSS	Brain Germinal Matrix	brain
27	chr6:13813400-13815400	Active TSS	Brain Substantia Nigra	brain
28	chr6:13813400-13815400	Active TSS	Colonic Mucosa	Colon
29	chr6:13813400-13815400	Active TSS	HSMM	muscle
30	chr6:13813400-13815400	Active TSS	NHDF-Ad	bronchial
31	chr6:13813400-13815600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:13813400-13815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:13813400-13815600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:13813400-13815600	Active TSS	Brain Angular Gyrus	brain
35	chr6:13813400-13815600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr6:13813400-13815600	Active TSS	Right Ventricle	heart
37	chr6:13813600-13814200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr6:13813600-13814200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr6:13813600-13814200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:13813600-13814600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:13813600-13815000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:13813600-13815000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:13813600-13815000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:13813600-13815000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:13813600-13815000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr6:13813600-13815000	Active TSS	Fetal Intestine Small	intestine
47	chr6:13813600-13815000	Active TSS	Fetal Stomach	stomach
48	chr6:13813600-13815000	Active TSS	Fetal Thymus	thymus
49	chr6:13813600-13815000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr6:13813600-13815000	Active TSS	HepG2	liver

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