Variant report

Variant	rs6855568
Chromosome Location	chr4:77155591-77155592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr4:77155518-77155938	K562	blood:	n/a	n/a
2	ELF1	chr4:77155453-77155992	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:77155130-77155931	K562	blood:	n/a	n/a
4	ZMIZ1	chr4:77155327-77155812	K562	blood:	n/a	n/a
5	MYC	chr4:77154851-77155897	K562	blood:	n/a	n/a
6	POLR2A	chr4:77155363-77156003	HCT-116	colon:	n/a	n/a
7	POLR2A	chr4:77155077-77155969	K562	blood:	n/a	n/a
8	POLR2A	chr4:77154833-77156028	K562	blood:	n/a	n/a
9	TBL1XR1	chr4:77155280-77156018	K562	blood:	n/a	n/a
10	POLR2A	chr4:77155257-77155966	SK-N-MC	brain:	n/a	n/a
11	CHD2	chr4:77154998-77155815	K562	blood:	n/a	n/a
12	MXI1	chr4:77154220-77156125	SK-N-SH	brain:	n/a	n/a
13	TBP	chr4:77155519-77155792	H1-hESC	embryonic stem cell:	n/a	n/a
14	TRIM28	chr4:77155206-77155885	K562	blood:	n/a	n/a
15	TAF1	chr4:77155096-77155895	K562	blood:	n/a	n/a
16	MAZ	chr4:77154762-77155989	K562	blood:	n/a	n/a
17	POLR2A	chr4:77154769-77155931	K562	blood:	n/a	n/a
18	TAF1	chr4:77155393-77155856	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFYB	chr4:77155583-77155851	K562	blood:	n/a	n/a
20	MAX	chr4:77155078-77155873	K562	blood:	n/a	n/a
21	SIN3AK20	chr4:77155536-77155805	SK-N-SH	brain:	n/a	n/a
22	MAX	chr4:77155085-77155892	SK-N-SH	brain:	n/a	n/a
23	JUND	chr4:77155340-77155984	K562	blood:	n/a	n/a
24	POLR2A	chr4:77155272-77155948	K562	blood:	n/a	n/a
25	MYC	chr4:77154721-77155985	K562	blood:	n/a	n/a
26	GABPA	chr4:77155395-77155992	SK-N-SH	brain:	n/a	n/a
27	IRF1	chr4:77155454-77155906	K562	blood:	n/a	n/a
28	PML	chr4:77155358-77155903	K562	blood:	n/a	n/a
29	ELF1	chr4:77155258-77156165	HCT-116	colon:	n/a	n/a
30	ZNF384	chr4:77155437-77155981	K562	blood:	n/a	n/a
31	HEY1	chr4:77155376-77155828	K562	blood:	n/a	n/a
32	POLR2A	chr4:77155323-77155917	K562	blood:	n/a	n/a
33	IRF1	chr4:77155580-77155897	K562	blood:	n/a	n/a
34	POLR2A	chr4:77155352-77156002	K562	blood:	n/a	n/a
35	POLR2A	chr4:77155373-77155991	HCT-116	colon:	n/a	n/a
36	MAX	chr4:77154942-77156162	HCT-116	colon:	n/a	n/a
37	GABPA	chr4:77155317-77156121	MCF-7	breast:	n/a	n/a
38	MYC	chr4:77154782-77155897	K562	blood:	n/a	n/a
39	POLR2A	chr4:77155309-77155920	PANC-1	pancreas:	n/a	n/a
40	ARID3A	chr4:77155559-77156029	K562	blood:	n/a	n/a
41	POLR2A	chr4:77155232-77155902	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr4:77155402-77155970	PANC-1	pancreas:	n/a	n/a
43	TEAD4	chr4:77155367-77155848	K562	blood:	n/a	n/a
44	POLR2A	chr4:77155516-77155599	ProgFib	skin:	n/a	n/a
45	ELF1	chr4:77155422-77155947	MCF-7	breast:	n/a	n/a
46	POLR2A	chr4:77155192-77155937	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr4:77155485-77155760	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr4:77155383-77156001	HCT-116	colon:	n/a	n/a
49	POLR2A	chr4:77155374-77155858	SK-N-SH	brain:	n/a	n/a
50	TAF1	chr4:77155320-77155972	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:77154636..77156996-chr4:77223567..77225179,2	MCF-7	breast:
2	chr4:77140173..77141929-chr4:77155477..77157250,2	MCF-7	breast:
3	chr4:77154634..77156817-chr4:77226157..77228039,2	MCF-7	breast:
4	chr4:77149994..77152737-chr4:77153466..77157199,4	MCF-7	breast:
5	chr4:77147821..77149709-chr4:77155389..77157207,2	K562	blood:
6	chr4:77154984..77156976-chr4:77172946..77174616,2	K562	blood:
7	chr4:77153577..77156755-chr4:77170388..77173391,3	MCF-7	breast:
8	chr4:77154267..77157230-chr4:77166961..77169632,3	MCF-7	breast:
9	chr4:77154403..77156525-chr4:77159760..77161520,2	K562	blood:
10	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
11	chr4:77154639..77157033-chr4:77221120..77222872,2	MCF-7	breast:
12	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:
13	chr4:77129658..77131326-chr4:77154481..77156766,2	MCF-7	breast:
14	chr4:77154535..77156481-chr4:77226996..77228596,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCARB2-1	chr4:77155456-77155656	NONHSAT096990

No data

Variant related genes	Relation type
FAM47E	TF binding region
ENSG00000272414	Chromatin interaction
ENSG00000118804	Chromatin interaction
ENSG00000138760	Chromatin interaction
ENSG00000189157	Chromatin interaction

rs_ID	r²[population]
rs11097296	0.82[ASN][1000 genomes]
rs11097297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737624	0.87[ASN][1000 genomes]
rs12331583	0.82[ASN][1000 genomes]
rs12501795	0.87[ASN][1000 genomes]
rs1372408	0.87[ASN][1000 genomes]
rs1441907	0.85[ASN][1000 genomes]
rs1441908	0.86[ASN][1000 genomes]
rs1441917	0.87[ASN][1000 genomes]
rs1441918	0.87[ASN][1000 genomes]
rs1441919	0.87[ASN][1000 genomes]
rs1441921	0.87[ASN][1000 genomes]
rs1441922	0.87[ASN][1000 genomes]
rs2197102	0.87[ASN][1000 genomes]
rs2218264	0.87[ASN][1000 genomes]
rs28530675	0.87[ASN][1000 genomes]
rs2904215	0.87[ASN][1000 genomes]
rs2904216	0.87[ASN][1000 genomes]
rs35177915	0.87[ASN][1000 genomes]
rs35851125	0.87[ASN][1000 genomes]
rs3919711	0.87[ASN][1000 genomes]
rs4859645	0.82[ASN][1000 genomes]
rs4859647	0.84[ASN][1000 genomes]
rs6814385	0.82[ASN][1000 genomes]
rs6837231	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6837841	0.87[ASN][1000 genomes]
rs6854218	0.82[ASN][1000 genomes]
rs7657929	0.86[ASN][1000 genomes]

SNP	Gene	Cis/trans	Tissue	Source
rs6855568	SCARB2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77153000-77155600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:77153600-77156200	Active TSS	K562	blood
3	chr4:77154000-77156400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:77154200-77155600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:77154200-77155600	Enhancers	HMEC	breast
6	chr4:77154200-77155800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:77154200-77156000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:77154200-77156000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:77154200-77156000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:77154200-77156000	Active TSS	Fetal Intestine Large	intestine
11	chr4:77154200-77156200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:77154200-77159800	Enhancers	Stomach Mucosa	stomach
13	chr4:77154400-77155800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:77154400-77155800	Active TSS	Fetal Intestine Small	intestine
15	chr4:77154400-77155800	Active TSS	Placenta	Placenta
16	chr4:77154400-77155800	Enhancers	Ovary	ovary
17	chr4:77154400-77156000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:77154400-77156000	Enhancers	Small Intestine	intestine
19	chr4:77154400-77156200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:77154600-77155600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:77154600-77156600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:77154800-77155600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:77154800-77155800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:77154800-77155800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:77154800-77155800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:77154800-77155800	Active TSS	HepG2	liver
27	chr4:77154800-77156000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:77154800-77156000	Enhancers	Esophagus	oesophagus
29	chr4:77154800-77156000	Enhancers	Pancreas	Pancrea
30	chr4:77154800-77156000	Active TSS	A549	lung
31	chr4:77155000-77155600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:77155000-77155600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:77155000-77155600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:77155000-77155600	Active TSS	Fetal Thymus	thymus
35	chr4:77155000-77155800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr4:77155000-77156000	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr4:77155200-77155600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:77155200-77155600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr4:77155200-77155800	Active TSS	Lung	lung
40	chr4:77155200-77155800	Enhancers	Psoas Muscle	Psoas
41	chr4:77155200-77155800	Active TSS	Stomach Smooth Muscle	stomach
42	chr4:77155200-77156200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:77155200-77156800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:77155400-77155600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr4:77155400-77155600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:77155400-77155600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:77155400-77155600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:77155400-77155600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:77155400-77155600	Flanking Active TSS	NHEK	skin
50	chr4:77155400-77155800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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