Variant report

Variant	rs77574073
Chromosome Location	chr6:144329672-144329673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr6:144329357-144329806	SK-N-SH_RA	brain:	n/a	chr6:144329593-144329604
2	NRF1	chr6:144329377-144330043	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr6:144328965-144329710	K562	blood:	n/a	n/a
4	USF1	chr6:144329476-144329776	GM12878	blood:	n/a	chr6:144329593-144329604
5	YY1	chr6:144329053-144329888	HepG2	liver:	n/a	n/a
6	MAX	chr6:144328860-144329932	NB4	blood:	n/a	n/a
7	CTCF	chr6:144329560-144329710	GM12867	blood:	n/a	n/a
8	MYC	chr6:144329247-144329720	K562	blood:	n/a	n/a
9	MAX	chr6:144329219-144329685	K562	blood:	n/a	n/a
10	POLR2A	chr6:144328873-144329772	PBDE	blood:	n/a	n/a
11	KAP1	chr6:144329139-144330282	HEK293	kidney:	n/a	n/a
12	BHLHE40	chr6:144329301-144329697	K562	blood:	n/a	n/a
13	POLR2A	chr6:144329035-144329750	HL-60	blood:	n/a	n/a
14	SIN3AK20	chr6:144329179-144329703	PANC-1	pancreas:	n/a	n/a
15	MAX	chr6:144329138-144329952	ECC-1	luminal epithelium:	n/a	n/a
16	TCF7L2	chr6:144328979-144329937	HCT-116	colon:	n/a	n/a
17	USF1	chr6:144329357-144329898	ECC-1	luminal epithelium:	n/a	chr6:144329593-144329604
18	USF2	chr6:144329554-144329750	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF1	chr6:144329460-144329676	HepG2	liver:	n/a	chr6:144329593-144329604
20	USF1	chr6:144329460-144329709	SK-N-SH_RA	brain:	n/a	chr6:144329593-144329604
21	USF1	chr6:144329388-144329699	A549	lung:	n/a	chr6:144329593-144329604
22	POLR2A	chr6:144329036-144329818	A549	lung:	n/a	n/a
23	POLR2A	chr6:144329173-144329719	U87	brain:	n/a	n/a
24	POLR2A	chr6:144329000-144329725	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr6:144329168-144329704	NB4	blood:	n/a	n/a
26	SETDB1	chr6:144329437-144330205	U2OS	brain:	n/a	n/a
27	E2F6	chr6:144329194-144329684	A549	lung:	n/a	chr6:144329479-144329487
28	MAX	chr6:144328869-144329839	HepG2	liver:	n/a	n/a
29	USF1	chr6:144329452-144329835	H1-hESC	embryonic stem cell:	n/a	chr6:144329593-144329604
30	RAD21	chr6:144329317-144330007	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:144329001-144329727	HUVEC	blood vessel:	n/a	n/a
32	ZBTB7A	chr6:144328893-144329814	K562	blood:	n/a	n/a
33	MXI1	chr6:144328905-144329675	IMR90	lung:	n/a	n/a
34	MAX	chr6:144329022-144330108	HCT-116	colon:	n/a	n/a
35	MAX	chr6:144329063-144329940	HCT-116	colon:	n/a	n/a
36	MYC	chr6:144328303-144329698	K562	blood:	n/a	n/a
37	POLR2A	chr6:144329028-144329831	HEK293	kidney:	n/a	n/a
38	POLR2A	chr6:144329167-144329719	U87	brain:	n/a	n/a
39	POLR2A	chr6:144329070-144329722	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr6:144329033-144329799	ProgFib	skin:	n/a	n/a
41	MAX	chr6:144329023-144330031	ECC-1	luminal epithelium:	n/a	n/a
42	USF1	chr6:144329396-144329730	H1-hESC	embryonic stem cell:	n/a	chr6:144329593-144329604
43	YY1	chr6:144329168-144329721	ECC-1	luminal epithelium:	n/a	n/a
44	E2F6	chr6:144328958-144329746	K562	blood:	n/a	chr6:144329479-144329487
45	POLR2A	chr6:144328875-144329727	K562	blood:	n/a	n/a
46	POLR2A	chr6:144329184-144329714	GM18951	blood:	n/a	n/a
47	MAX	chr6:144329265-144329726	A549	lung:	n/a	n/a
48	USF1	chr6:144329295-144329791	K562	blood:	n/a	chr6:144329593-144329604
49	MYC	chr6:144329342-144329691	A549	lung:	n/a	n/a
50	USF1	chr6:144329482-144329679	A549	lung:	n/a	chr6:144329593-144329604

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144329672-144329722	GM12891	blood:	n/a
2	chr6:144329672-144329722	HMEC	breast:	n/a
3	chr6:144329672-144329722	AG04450	lung:	fetal
4	chr6:144329672-144329722	GM06990	blood:	n/a
5	chr6:144329672-144329722	BE2_C	brain:	n/a
6	chr6:144329672-144329722	U87	brain:	n/a
7	chr6:144329672-144329722	IMR90	lung:	fetal
8	chr6:144329672-144329722	PrEC	prostate:	n/a
9	chr6:144329672-144329722	GM12892	blood:	n/a
10	chr6:144329672-144329722	HepG2	liver:	n/a
11	chr6:144329672-144329722	A549	lung:	n/a
12	chr6:144329672-144329722	AG09309	skin:	n/a
13	chr6:144329672-144329722	K562	blood:	n/a
14	chr6:144329672-144329722	ProgFib	skin:	n/a
15	chr6:144329672-144329722	HCT-116	colon:	n/a
16	chr6:144329672-144329722	AG09319	gingival:	n/a
17	chr6:144329672-144329722	GM12878	blood:	n/a
18	chr6:144329672-144329722	HRPEpiC	eye:	n/a
19	chr6:144329672-144329722	BJ	skin:	n/a
20	chr6:144329672-144329722	LNCaP	prostate:	n/a
21	chr6:144329672-144329722	HEK293	kidney:	embryo
22	chr6:144329672-144329722	SAEC	small airway:	n/a
23	chr6:144329672-144329722	Hela-S3	cervix:	n/a
24	chr6:144329672-144329722	HAEpiC	amniotic membrane:	n/a
25	chr6:144329672-144329722	NHBE	bronchial:	n/a
26	chr6:144329672-144329722	NHDF-neo	bronchial:	n/a
27	chr6:144329672-144329722	NB4	blood:	n/a
28	chr6:144329672-144329722	SKMC	muscle:	n/a
29	chr6:144329672-144329722	Hepatocyte	liver:	n/a
30	chr6:144329672-144329722	RPTEC	kidney:	n/a
31	chr6:144329672-144329722	HIPEpiC	eye:	n/a
32	chr6:144329672-144329722	AoSMC	blood vessel:	n/a
33	chr6:144329672-144329722	HNPCEpiC	eye:	n/a
34	chr6:144329672-144329722	PFSK-1	brain:	n/a
35	chr6:144329672-144329722	ovcar-3	ovarian:	n/a
36	chr6:144329672-144329722	Jurkat	blood:	n/a
37	chr6:144329672-144329722	AG10803	skin:	n/a
38	chr6:144329672-144329722	CMK	blood:	n/a
39	chr6:144329672-144329722	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:144329672-144329722	MCF-7	breast:	n/a
41	chr6:144329672-144329722	SK-N-SH	brain:	n/a
42	chr6:144329672-144329722	AG04449	skin:	fetal
43	chr6:144329672-144329722	T-47D	breast:	n/a
44	chr6:144329672-144329722	HL-60	blood:	n/a
45	chr6:144329672-144329722	HCM	heart:	n/a
46	chr6:144329672-144329722	GM19239	blood:	n/a
47	chr6:144329672-144329722	HCF	heart:	n/a
48	chr6:144329672-144329722	HRCEpiC	kidney:	n/a
49	chr6:144329672-144329722	SK-N-MC	brain:	n/a
50	chr6:144329672-144329722	MCF10A-Er-Src	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144284653..144286601-chr6:144327499..144329714,2	K562	blood:
2	chr6:143769099..143771662-chr6:144327770..144329794,2	K562	blood:
3	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:
4	chr6:144284921..144286601-chr6:144327267..144329714,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-2	chr6:144325474-144329867	NONHSAT115373

No data

Variant related genes	Relation type
PLAGL1	TF binding region
PLAGL1	CpG island
ENSG00000118495	Chromatin interaction
ENSG00000223203	Chromatin interaction
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3339290	chr6:144327784-144330832	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144325200-144330000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:144326000-144330000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:144326200-144330000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:144326600-144330200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:144327200-144329800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:144327200-144329800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr6:144327200-144329800	Active TSS	Fetal Intestine Large	intestine
8	chr6:144327200-144329800	Active TSS	Fetal Muscle Trunk	muscle
9	chr6:144327200-144329800	Active TSS	Fetal Stomach	stomach
10	chr6:144327200-144329800	Active TSS	K562	blood
11	chr6:144327200-144329800	Active TSS	NHLF	lung
12	chr6:144327200-144330000	Active TSS	Stomach Smooth Muscle	stomach
13	chr6:144327200-144330000	Active TSS	NHDF-Ad	bronchial
14	chr6:144327400-144329800	Active TSS	Left Ventricle	heart
15	chr6:144327400-144329800	Active TSS	HSMMtube	muscle
16	chr6:144327400-144330000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr6:144327400-144330000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:144327400-144330000	Active TSS	Aorta	Aorta
19	chr6:144327400-144330000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:144327400-144330000	Active TSS	Fetal Brain Female	brain
21	chr6:144327400-144330000	Active TSS	Fetal Lung	lung
22	chr6:144327400-144330000	Active TSS	Ovary	ovary
23	chr6:144327400-144330000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:144327400-144330000	Active TSS	Right Atrium	heart
25	chr6:144327400-144330000	Active TSS	A549	lung
26	chr6:144327400-144330000	Active TSS	HSMM	muscle
27	chr6:144327400-144330000	Active TSS	NHEK	skin
28	chr6:144327400-144330200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr6:144327400-144330200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:144327400-144330200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:144327400-144330200	Active TSS	Fetal Kidney	kidney
32	chr6:144327600-144329800	Active TSS	Pancreas	Pancrea
33	chr6:144327600-144330000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:144327600-144330000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:144327600-144330000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:144327600-144330000	Active TSS	Rectal Smooth Muscle	rectum
37	chr6:144327800-144329800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr6:144327800-144329800	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:144327800-144329800	Active TSS	NH-A	brain
40	chr6:144327800-144330000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:144327800-144330000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:144327800-144330000	Active TSS	Brain Germinal Matrix	brain
43	chr6:144327800-144330000	Active TSS	Duodenum Mucosa	Duodenum
44	chr6:144327800-144330000	Active TSS	Fetal Intestine Small	intestine
45	chr6:144327800-144330000	Active TSS	Osteobl	bone
46	chr6:144328000-144329800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:144328000-144329800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:144328000-144329800	Active TSS	Right Ventricle	heart
49	chr6:144328000-144330000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:144328000-144330000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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