Variant report

Variant	rs371569720
Chromosome Location	chr6:80816376-80816377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:377)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:80815937-80816590	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:80815971-80816628	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:80815948-80816641	GM10847	blood:	n/a	n/a
4	POLR2A	chr6:80815865-80816660	PANC-1	pancreas:	n/a	n/a
5	GTF2B	chr6:80816093-80816536	K562	blood:	n/a	n/a
6	POLR2A	chr6:80815958-80816651	K562	blood:	n/a	n/a
7	POLR2A	chr6:80815883-80816833	GM12892	blood:	n/a	n/a
8	ELF1	chr6:80816081-80816511	K562	blood:	n/a	n/a
9	ELK1	chr6:80815987-80816636	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr6:80816271-80816449	Hela-S3	cervix:	n/a	n/a
11	TBP	chr6:80815771-80816528	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr6:80816342-80816915	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr6:80815863-80816596	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:80815857-80816546	SK-N-MC	brain:	n/a	n/a
15	ZKSCAN1	chr6:80815992-80816545	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr6:80815990-80816600	HepG2	liver:	n/a	chr6:80816348-80816363
17	CTCF	chr6:80816013-80816541	GM12878	blood:	n/a	n/a
18	MXI1	chr6:80816234-80816478	K562	blood:	n/a	n/a
19	POLR2A	chr6:80815867-80816845	HL-60	blood:	n/a	n/a
20	POLR2A	chr6:80815899-80816691	GM18526	blood:	n/a	n/a
21	POLR2A	chr6:80816292-80816548	GM12891	blood:	n/a	n/a
22	FOXM1	chr6:80816064-80816677	GM12878	blood:	n/a	n/a
23	MAX	chr6:80816033-80816922	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYBL2	chr6:80815901-80816509	HepG2	liver:	n/a	n/a
25	TAF1	chr6:80816004-80816569	GM12891	blood:	n/a	n/a
26	POLR2A	chr6:80816016-80816673	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr6:80815915-80816960	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr6:80815948-80816569	GM12891	blood:	n/a	n/a
29	MTA3	chr6:80815827-80816670	GM12878	blood:	n/a	n/a
30	TAF7	chr6:80816113-80816773	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:80815814-80816893	GM18951	blood:	n/a	n/a
32	EP300	chr6:80815752-80816438	K562	blood:	n/a	n/a
33	IRF1	chr6:80815701-80816649	K562	blood:	n/a	chr6:80816260-80816274 chr6:80815834-80815851
34	POLR2A	chr6:80815723-80816755	GM15510	blood:	n/a	n/a
35	ELF1	chr6:80815926-80816396	K562	blood:	n/a	n/a
36	POLR2A	chr6:80816045-80816802	MCF-7	breast:	n/a	n/a
37	POLR2A	chr6:80815701-80816846	PFSK-1	brain:	n/a	n/a
38	SIN3AK20	chr6:80816275-80816536	SK-N-SH	brain:	n/a	n/a
39	CBX3	chr6:80815905-80816513	K562	blood:	n/a	n/a
40	FOS	chr6:80815976-80816379	MCF10A-Er-Src	breast:	n/a	chr6:80816285-80816294
41	CHD2	chr6:80816217-80816570	K562	blood:	n/a	n/a
42	POLR2A	chr6:80815856-80816730	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:80816048-80816798	MCF-7	breast:	n/a	n/a
44	SIN3AK20	chr6:80815875-80817050	MCF-7	breast:	n/a	n/a
45	RFX5	chr6:80816160-80816415	K562	blood:	n/a	n/a
46	SIN3A	chr6:80815933-80816971	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr6:80816167-80816684	ECC-1	luminal epithelium:	n/a	n/a
48	PAX5	chr6:80816254-80816536	GM12892	blood:	n/a	n/a
49	POLR2A	chr6:80815909-80816652	HEK293	kidney:	n/a	n/a
50	TAF1	chr6:80816245-80816509	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:40674973..40675561-chr6:80815881..80816507,2	Hela-S3	cervix:
2	chr13:77600897..77601550-chr6:80816034..80816884,2	NB4	blood:
3	chr6:80815077..80817880-chr6:80835991..80839240,3	MCF-7	breast:

No data

Variant related genes	Relation type
BCKDHB	TF binding region
ENSG00000083123	Chromatin interaction
ENSG00000128944	Chromatin interaction
ENSG00000005812	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	esv3398521	chr6:80816133-80818281	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80815200-80817400	Active TSS	Fetal Kidney	kidney
2	chr6:80815400-80816800	Active TSS	Rectal Smooth Muscle	rectum
3	chr6:80815400-80817400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:80815600-80816600	Active TSS	Primary T cells fromperipheralblood	blood
5	chr6:80815600-80816600	Active TSS	Duodenum Mucosa	Duodenum
6	chr6:80815600-80816600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:80815600-80816600	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:80815600-80816600	Active TSS	HepG2	liver
9	chr6:80815600-80816800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr6:80815600-80816800	Active TSS	Fetal Brain Female	brain
11	chr6:80815600-80816800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr6:80815600-80817000	Active TSS	Brain Cingulate Gyrus	brain
13	chr6:80815600-80817000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:80815600-80817000	Active TSS	Right Atrium	heart
15	chr6:80815600-80817000	Active TSS	A549	lung
16	chr6:80815600-80817200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:80815600-80817200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:80815600-80817200	Active TSS	Brain Hippocampus Middle	brain
19	chr6:80815600-80817200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr6:80815600-80817200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr6:80815600-80817400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:80815600-80817400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:80815600-80817400	Active TSS	Fetal Intestine Large	intestine
24	chr6:80815600-80817400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:80815600-80817400	Active TSS	K562	blood
26	chr6:80815600-80817800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:80815600-80817800	Active TSS	Stomach Smooth Muscle	stomach
28	chr6:80815600-80819200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:80815800-80816400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:80815800-80816600	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:80815800-80816600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:80815800-80816600	Active TSS	Colonic Mucosa	Colon
33	chr6:80815800-80816600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr6:80815800-80816600	Active TSS	Fetal Muscle Leg	muscle
35	chr6:80815800-80816600	Active TSS	Placenta	Placenta
36	chr6:80815800-80816800	Active TSS	Primary T cells from cord blood	blood
37	chr6:80815800-80816800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:80815800-80816800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:80815800-80816800	Active TSS	Brain Angular Gyrus	brain
40	chr6:80815800-80816800	Active TSS	Fetal Intestine Small	intestine
41	chr6:80815800-80816800	Active TSS	Fetal Muscle Trunk	muscle
42	chr6:80815800-80816800	Active TSS	Fetal Stomach	stomach
43	chr6:80815800-80816800	Active TSS	Fetal Thymus	thymus
44	chr6:80815800-80816800	Active TSS	Stomach Mucosa	stomach
45	chr6:80815800-80816800	Active TSS	Thymus	Thymus
46	chr6:80815800-80816800	Active TSS	HSMM	muscle
47	chr6:80815800-80816800	Active TSS	NH-A	brain
48	chr6:80815800-80817000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:80815800-80817000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:80815800-80817000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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