Variant report

Variant	rs3734667
Chromosome Location	chr6:13814848-13814849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

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	ELK1	chr6:13814374-13815091	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:13813793-13815138	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr6:13814117-13814971	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr6:13813765-13815165	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:13814090-13815296	HL-60	blood:	n/a	n/a
10	GATA3	chr6:13814822-13815210	T-47D	breast:	n/a	n/a
11	ZBTB7A	chr6:13813877-13815089	K562	blood:	n/a	n/a
12	E2F4	chr6:13813838-13815077	K562	blood:	n/a	chr6:13814227-13814239
13	POLR2A	chr6:13814841-13815225	GM12891	blood:	n/a	n/a
14	MYC	chr6:13814238-13815197	K562	blood:	n/a	n/a
15	YY1	chr6:13814011-13815128	K562	blood:	n/a	chr6:13814060-13814074
16	POLR2A	chr6:13813849-13815215	HEK293	kidney:	n/a	n/a
17	MXI1	chr6:13813672-13815550	IMR90	lung:	n/a	n/a
18	RCOR1	chr6:13813947-13815047	HepG2	liver:	n/a	n/a
19	FOXP2	chr6:13814668-13815039	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr6:13814201-13815368	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr6:13813682-13815419	MCF-7	breast:	n/a	n/a
22	POLR2A	chr6:13813829-13815322	MCF-7	breast:	n/a	n/a
23	BHLHE40	chr6:13813776-13815189	K562	blood:	n/a	n/a
24	POLR2A	chr6:13814162-13815350	GM12892	blood:	n/a	n/a
25	MAX	chr6:13813703-13815311	HepG2	liver:	n/a	n/a
26	GTF2B	chr6:13814846-13815132	K562	blood:	n/a	n/a
27	EGR1	chr6:13814269-13815032	K562	blood:	n/a	chr6:13814886-13814899
28	GATA3	chr6:13814317-13815291	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:13814802-13815089	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:13814187-13815254	GM12878	blood:	n/a	n/a
31	MAX	chr6:13813826-13815025	HepG2	liver:	n/a	n/a
32	MAX	chr6:13814059-13814892	HUVEC	blood vessel:	n/a	n/a
33	USF1	chr6:13813810-13814996	HCT-116	colon:	n/a	chr6:13814463-13814474
34	TAF1	chr6:13814802-13815098	SK-N-SH	brain:	n/a	n/a
35	NFIC	chr6:13814844-13815268	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:13813863-13815675	K562	blood:	n/a	n/a
37	ZNF143	chr6:13813896-13815261	GM12878	blood:	n/a	chr6:13813983-13814001
38	POLR2A	chr6:13814152-13815313	K562	blood:	n/a	n/a
39	MYBL2	chr6:13814462-13815277	HepG2	liver:	n/a	n/a
40	POLR2A	chr6:13813843-13815677	MCF10A-Er-Src	breast:	n/a	n/a
41	TAF1	chr6:13814227-13815199	GM12878	blood:	n/a	n/a
42	GTF2F1	chr6:13814317-13815328	K562	blood:	n/a	chr6:13815149-13815160
43	MYC	chr6:13813810-13815370	NB4	blood:	n/a	n/a
44	MAZ	chr6:13813284-13815235	IMR90	lung:	n/a	n/a
45	ELF1	chr6:13814723-13815152	HepG2	liver:	n/a	n/a
46	NFIC	chr6:13814809-13815269	GM12878	blood:	n/a	n/a
47	HEY1	chr6:13814121-13815260	K562	blood:	n/a	n/a
48	TAF1	chr6:13814402-13815242	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr6:13813853-13815131	MCF-7	breast:	n/a	n/a
50	POLR2A	chr6:13813781-13815098	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
2	chr1:45186930..45187740-chr6:13814433..13814972,2	Hela-S3	cervix:
3	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
4	chr5:34915396..34916176-chr6:13814486..13815274,2	Hela-S3	cervix:
5	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
6	chr6:13814382..13814930-chr8:42697668..42698445,2	HCT-116	colon:
7	chr20:48770031..48771005-chr6:13814434..13814952,2	Hela-S3	cervix:
8	chr1:202776857..202777529-chr6:13814056..13814868,2	MCF-7	breast:
9	chr6:13811882..13817297-chr6:13824102..13828307,6	K562	blood:
10	chr2:43453331..43454101-chr6:13814546..13815235,2	Hela-S3	cervix:
11	chr18:3450087..3450684-chr6:13814430..13814965,2	Hela-S3	cervix:
12	chr1:249120244..249120977-chr6:13813975..13814922,2	Hela-S3	cervix:
13	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
14	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233075	TF binding region
MCUR1	TF binding region
ENSG00000175137	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000240849	Chromatin interaction
ENSG00000113460	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000117139	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000113456	Chromatin interaction
ENSG00000124208	Chromatin interaction
ENSG00000131931	Chromatin interaction
ENSG00000264500	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000177426	Chromatin interaction
ENSG00000272209	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12206286	0.83[EUR][1000 genomes]

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	chr6:13813200-13815200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:13813200-13815400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:13813200-13815400	Active TSS	A549	lung
5	chr6:13813200-13815600	Active TSS	HSMMtube	muscle
6	chr6:13813400-13815000	Active TSS	Placenta	Placenta
7	chr6:13813400-13815000	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:13813400-13815200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:13813400-13815200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:13813400-13815200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:13813400-13815200	Active TSS	Fetal Kidney	kidney
12	chr6:13813400-13815200	Active TSS	Stomach Smooth Muscle	stomach
13	chr6:13813400-13815200	Active TSS	NHLF	lung
14	chr6:13813400-13815400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:13813400-13815400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:13813400-13815400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:13813400-13815400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:13813400-13815400	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:13813400-13815400	Active TSS	Brain Germinal Matrix	brain
22	chr6:13813400-13815400	Active TSS	Brain Substantia Nigra	brain
23	chr6:13813400-13815400	Active TSS	Colonic Mucosa	Colon
24	chr6:13813400-13815400	Active TSS	HSMM	muscle
25	chr6:13813400-13815400	Active TSS	NHDF-Ad	bronchial
26	chr6:13813400-13815600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:13813400-13815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:13813400-13815600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:13813400-13815600	Active TSS	Brain Angular Gyrus	brain
30	chr6:13813400-13815600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr6:13813400-13815600	Active TSS	Right Ventricle	heart
32	chr6:13813600-13815000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:13813600-13815000	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr6:13813600-13815000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:13813600-13815000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:13813600-13815000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr6:13813600-13815000	Active TSS	Fetal Intestine Small	intestine
38	chr6:13813600-13815000	Active TSS	Fetal Stomach	stomach
39	chr6:13813600-13815000	Active TSS	Fetal Thymus	thymus
40	chr6:13813600-13815000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:13813600-13815000	Active TSS	HepG2	liver
42	chr6:13813600-13815000	Active TSS	NH-A	brain
43	chr6:13813600-13815000	Active TSS	NHEK	skin
44	chr6:13813600-13815200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:13813600-13815200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:13813600-13815200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:13813600-13815200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:13813600-13815200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:13813600-13815200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:13813600-13815200	Active TSS	Brain Anterior Caudate	brain

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