Variant report

Variant	rs564448955
Chromosome Location	chr6:132270065-132270066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:132269199-132272798	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:132269920-132270070	HBMEC	blood vessel:	n/a	n/a
3	ARID3A	chr6:132267673-132270307	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:132269231-132272053	U87	brain:	n/a	n/a
5	CHD2	chr6:132267213-132272030	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF7	chr6:132269773-132270249	H1-hESC	embryonic stem cell:	n/a	n/a
7	NR2F2	chr6:132269786-132273124	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:132269819-132270665	HepG2	liver:	n/a	n/a
9	GATA3	chr6:132269693-132272021	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr6:132267033-132272723	HepG2	liver:	n/a	n/a
11	JUND	chr6:132269796-132270182	H1-hESC	embryonic stem cell:	n/a	n/a
12	HEY1	chr6:132268004-132272823	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:132266659-132272679	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:132269776-132272855	PFSK-1	brain:	n/a	n/a
15	TAF7	chr6:132267350-132272864	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:132269794-132270573	ECC-1	luminal epithelium:	n/a	n/a
17	JUND	chr6:132269824-132270180	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:132269397-132272146	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr6:132267640-132272713	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr6:132267546-132272205	SK-N-SH	brain:	n/a	n/a
21	SP4	chr6:132269736-132270680	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr6:132269563-132272788	HepG2	liver:	n/a	n/a
23	POLR2A	chr6:132267577-132272738	HepG2	liver:	n/a	n/a
24	HEY1	chr6:132267607-132272711	HepG2	liver:	n/a	n/a
25	SIN3A	chr6:132269823-132270615	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr6:132269923-132271921	HepG2	liver:	n/a	chr6:132271843-132271853 chr6:132271785-132271795 chr6:132271781-132271795
27	POLR2A	chr6:132266835-132272625	A549	lung:	n/a	n/a
28	CTCF	chr6:132269940-132270090	HPAF	blood vessel:	n/a	n/a
29	PBX3	chr6:132269763-132272960	SK-N-SH	brain:	n/a	n/a
30	JUND	chr6:132267689-132270733	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr6:132269804-132270272	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:132267141-132272853	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:132266399-132272824	HUVEC	blood vessel:	n/a	n/a
34	RCOR1	chr6:132269484-132270763	HepG2	liver:	n/a	n/a
35	NRF1	chr6:132269806-132270176	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr6:132269666-132270584	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:132267721-132272732	HepG2	liver:	n/a	n/a
38	MBD4	chr6:132267974-132270734	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:132269785-132272726	SK-N-SH	brain:	n/a	n/a
40	CHD1	chr6:132266417-132273369	IMR90	lung:	n/a	n/a
41	TEAD4	chr6:132269423-132271784	HepG2	liver:	n/a	n/a
42	POLR2A	chr6:132269233-132272940	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr6:132267654-132272716	HepG2	liver:	n/a	n/a
44	CHD1	chr6:132269408-132273163	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFIC	chr6:132267809-132271993	HepG2	liver:	n/a	n/a
46	MBD4	chr6:132267547-132272994	HepG2	liver:	n/a	n/a
47	CHD2	chr6:132269796-132270636	HepG2	liver:	n/a	n/a
48	NFIC	chr6:132269789-132270531	HepG2	liver:	n/a	n/a
49	USF2	chr6:132269793-132270534	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:132269256-132272815	PANC-1	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132270033-132270083	HCM	heart:	n/a
2	chr6:132270033-132270083	Jurkat	blood:	n/a
3	chr6:132270033-132270083	T-47D	breast:	n/a
4	chr6:132270033-132270083	HRCEpiC	kidney:	n/a
5	chr6:132270033-132270083	GM12892	blood:	n/a
6	chr6:132270033-132270083	BE2_C	brain:	n/a
7	chr6:132270033-132270083	CMK	blood:	n/a
8	chr6:132270033-132270083	HL-60	blood:	n/a
9	chr6:132270033-132270083	HAEpiC	amniotic membrane:	n/a
10	chr6:132270033-132270083	SK-N-MC	brain:	n/a
11	chr6:132270033-132270083	Hepatocyte	liver:	n/a
12	chr6:132270033-132270083	HMEC	breast:	n/a
13	chr6:132270033-132270083	HEK293	kidney:	embryo
14	chr6:132270033-132270083	HEEpiC	esophagus:	n/a
15	chr6:132270033-132270083	GM19239	blood:	n/a
16	chr6:132270033-132270083	Caco-2	colon:	n/a
17	chr6:132270033-132270083	HUVEC	blood vessel:	n/a
18	chr6:132270033-132270083	H1-hESC	embryonic stem cell:	embryo
19	chr6:132270033-132270083	AG04449	skin:	fetal
20	chr6:132270033-132270083	LNCaP	prostate:	n/a
21	chr6:132270033-132270083	BJ	skin:	n/a
22	chr6:132270033-132270083	HIPEpiC	eye:	n/a
23	chr6:132270033-132270083	MCF10A-Er-Src	breast:	n/a
24	chr6:132270033-132270083	AG09309	skin:	n/a
25	chr6:132270033-132270083	GM12878	blood:	n/a
26	chr6:132270033-132270083	SAEC	small airway:	n/a
27	chr6:132270033-132270083	K562	blood:	n/a
28	chr6:132270033-132270083	IMR90	lung:	fetal
29	chr6:132270033-132270083	GM06990	blood:	n/a
30	chr6:132270033-132270083	SKMC	muscle:	n/a
31	chr6:132270033-132270083	NHDF-neo	bronchial:	n/a
32	chr6:132270033-132270083	ProgFib	skin:	n/a
33	chr6:132270033-132270083	PANC-1	pancreas:	n/a
34	chr6:132270033-132270083	GM12891	blood:	n/a
35	chr6:132270033-132270083	PrEC	prostate:	n/a
36	chr6:132270033-132270083	AG10803	skin:	n/a
37	chr6:132270033-132270083	HepG2	liver:	n/a
38	chr6:132270033-132270083	U87	brain:	n/a
39	chr6:132270033-132270083	HCF	heart:	n/a
40	chr6:132270033-132270083	NH-A	brain:	n/a
41	chr6:132270033-132270083	SK-N-SH_RA	brain:	n/a
42	chr6:132270033-132270083	AoSMC	blood vessel:	n/a
43	chr6:132270033-132270083	Hela-S3	cervix:	n/a
44	chr6:132270033-132270083	NT2-D1	testis:	n/a
45	chr6:132270033-132270083	NB4	blood:	n/a
46	chr6:132270033-132270083	HRE	kidney:	n/a
47	chr6:132270033-132270083	A549	lung:	n/a
48	chr6:132270033-132270083	AG04450	lung:	fetal
49	chr6:132270033-132270083	ovcar-3	ovarian:	n/a
50	chr6:132270033-132270083	PFSK-1	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132454814-132459405	GM12878	blood:
2	chr6:132269202..132270908-chr6:132273565..132275106,2	K562	blood:
3	6:132269655-132282174..6:132434977-132438109	Hela-S3	cervix:
4	6:132269655-132282174..6:132402790-132406656	H1-hESC	embryonic stem cell:	embryo
5	6:132269655-132282174..6:132480387-132483283	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000227220	TF binding region
ENSG00000227220	CpG island
ENSG00000228495	Chromatin interaction
ENSG00000265669	Chromatin interaction
ENSG00000236166	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv3398326	chr6:132269959-132274257	Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132259200-132271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:132259400-132270400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:132259400-132271000	Weak transcription	Liver	Liver
4	chr6:132260000-132271000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:132266400-132270200	Active TSS	Osteobl	bone
6	chr6:132267800-132270400	Weak transcription	Gastric	stomach
7	chr6:132268000-132270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:132268200-132271800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr6:132268400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:132269000-132271800	Transcr. at gene 5' and 3'	NH-A	brain
11	chr6:132269200-132270400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:132269400-132270200	Active TSS	Brain Hippocampus Middle	brain
13	chr6:132269400-132270200	Active TSS	Colon Smooth Muscle	Colon
14	chr6:132269400-132270400	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr6:132269400-132270400	Active TSS	Fetal Intestine Small	intestine
16	chr6:132269400-132270400	Enhancers	Fetal Lung	lung
17	chr6:132269400-132270600	Transcr. at gene 5' and 3'	HMEC	breast
18	chr6:132269400-132270600	Transcr. at gene 5' and 3'	HSMM	muscle
19	chr6:132269400-132271000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:132269400-132271000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:132269400-132271000	Active TSS	Duodenum Mucosa	Duodenum
22	chr6:132269400-132271000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr6:132269400-132271200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:132269400-132271400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:132269400-132271400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr6:132269400-132271400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
27	chr6:132269400-132271400	Transcr. at gene 5' and 3'	A549	lung
28	chr6:132269400-132271600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
29	chr6:132269400-132271600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:132269400-132271800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:132269400-132271800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
32	chr6:132269400-132271800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:132269400-132271800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
34	chr6:132269400-132272000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:132269400-132272000	Enhancers	Hela-S3	cervix
36	chr6:132269400-132273000	Active TSS	Ovary	ovary
37	chr6:132269600-132271200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
38	chr6:132269600-132271400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:132269600-132271600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
40	chr6:132269600-132271600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
41	chr6:132269800-132270200	Flanking Active TSS	Right Atrium	heart
42	chr6:132269800-132270200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr6:132269800-132270400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:132269800-132270400	Enhancers	Placenta	Placenta
45	chr6:132269800-132270600	Transcr. at gene 5' and 3'	Aorta	Aorta
46	chr6:132269800-132270600	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
47	chr6:132269800-132270600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
48	chr6:132269800-132270600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr6:132269800-132270800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
50	chr6:132269800-132271000	Active TSS	Fetal Muscle Trunk	muscle

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