Variant report

Variant	rs11097297
Chromosome Location	chr4:77154865-77154866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr4:77154747-77155072	K562	blood:	n/a	n/a
2	HDAC2	chr4:77154762-77154946	K562	blood:	n/a	n/a
3	MYC	chr4:77154851-77155897	K562	blood:	n/a	n/a
4	POLR2A	chr4:77154833-77156028	K562	blood:	n/a	n/a
5	MXI1	chr4:77154220-77156125	SK-N-SH	brain:	n/a	n/a
6	MAZ	chr4:77154762-77155989	K562	blood:	n/a	n/a
7	POLR2A	chr4:77154769-77155931	K562	blood:	n/a	n/a
8	RCOR1	chr4:77154829-77155058	K562	blood:	n/a	n/a
9	CEBPD	chr4:77154774-77155070	K562	blood:	n/a	n/a
10	GATA1	chr4:77153887-77155287	PBDE	blood:	n/a	n/a
11	MYC	chr4:77154721-77155985	K562	blood:	n/a	n/a
12	TBP	chr4:77154760-77154963	K562	blood:	n/a	n/a
13	CEBPD	chr4:77154687-77155167	K562	blood:	n/a	n/a
14	CEBPB	chr4:77154760-77155080	K562	blood:	n/a	n/a
15	MYC	chr4:77154782-77155897	K562	blood:	n/a	n/a
16	STAT5A	chr4:77154655-77155104	K562	blood:	n/a	n/a
17	PML	chr4:77154713-77155303	K562	blood:	n/a	n/a
18	TEAD4	chr4:77154666-77155121	K562	blood:	n/a	n/a
19	ZMIZ1	chr4:77154830-77155070	K562	blood:	n/a	n/a
20	POLR2A	chr4:77154808-77156066	K562	blood:	n/a	n/a
21	EP300	chr4:77154430-77155041	K562	blood:	n/a	n/a
22	POLR2A	chr4:77154747-77155873	K562	blood:	n/a	n/a
23	RCOR1	chr4:77154831-77155094	K562	blood:	n/a	n/a
24	GATA2	chr4:77154680-77155044	K562	blood:	n/a	n/a
25	TBL1XR1	chr4:77154744-77155885	K562	blood:	n/a	n/a
26	TEAD4	chr4:77154670-77155125	K562	blood:	n/a	n/a
27	MAX	chr4:77154709-77155071	K562	blood:	n/a	n/a
28	EP300	chr4:77154689-77154946	SK-N-SH_RA	brain:	n/a	n/a
29	PML	chr4:77154626-77155144	K562	blood:	n/a	n/a
30	POLR2A	chr4:77154607-77155078	SK-N-MC	brain:	n/a	n/a
31	IRF1	chr4:77154536-77155906	K562	blood:	n/a	n/a
32	TBL1XR1	chr4:77154710-77154950	K562	blood:	n/a	n/a
33	TAL1	chr4:77154704-77155134	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77154636..77156996-chr4:77223567..77225179,2	MCF-7	breast:
2	chr4:77154634..77156817-chr4:77226157..77228039,2	MCF-7	breast:
3	chr4:77149994..77152737-chr4:77153466..77157199,4	MCF-7	breast:
4	chr4:77138488..77141116-chr4:77152949..77154960,2	K562	blood:
5	chr4:77153577..77156755-chr4:77170388..77173391,3	MCF-7	breast:
6	chr4:77154267..77157230-chr4:77166961..77169632,3	MCF-7	breast:
7	chr4:77154403..77156525-chr4:77159760..77161520,2	K562	blood:
8	chr4:77132958..77141575-chr4:77150872..77159587,22	MCF-7	breast:
9	chr4:77154639..77157033-chr4:77221120..77222872,2	MCF-7	breast:
10	chr4:77131893..77139465-chr4:77152630..77158664,14	MCF-7	breast:
11	chr4:77129658..77131326-chr4:77154481..77156766,2	MCF-7	breast:
12	chr4:77154535..77156481-chr4:77226996..77228596,2	MCF-7	breast:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10446680	0.90[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11097296	0.84[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11737624	0.88[ASN][1000 genomes]
rs12331583	0.83[ASN][1000 genomes]
rs12501795	0.88[ASN][1000 genomes]
rs1348206	0.84[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs1348208	0.80[ASN][1000 genomes]
rs1372408	0.88[ASN][1000 genomes]
rs1441906	0.80[ASN][1000 genomes]
rs1441907	0.92[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1441908	0.87[ASN][1000 genomes]
rs1441917	0.88[ASN][1000 genomes]
rs1441918	0.88[ASN][1000 genomes]
rs1441919	0.88[ASN][1000 genomes]
rs1441921	0.88[ASN][1000 genomes]
rs1441922	0.92[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2197102	0.88[ASN][1000 genomes]
rs2218264	0.88[ASN][1000 genomes]
rs28530675	0.88[ASN][1000 genomes]
rs2904215	0.92[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2904216	0.91[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs35177915	0.88[ASN][1000 genomes]
rs35851125	0.88[ASN][1000 genomes]
rs3919711	0.88[ASN][1000 genomes]
rs4859645	0.83[ASN][1000 genomes]
rs4859647	0.85[ASN][1000 genomes]
rs6814385	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6837231	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6837841	0.88[ASN][1000 genomes]
rs6854218	0.83[ASN][1000 genomes]
rs6855568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657929	0.87[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11097297	CCNI	cis	cerebellum	SCAN
rs11097297	SCARB2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77138800-77155200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:77151600-77155200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:77153000-77155600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:77153600-77155200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:77153600-77155400	Active TSS	NHEK	skin
6	chr4:77153600-77156200	Active TSS	K562	blood
7	chr4:77153800-77155000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:77154000-77155400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:77154000-77156400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:77154200-77155000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:77154200-77155000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:77154200-77155000	Enhancers	Fetal Lung	lung
13	chr4:77154200-77155400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:77154200-77155600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:77154200-77155600	Enhancers	HMEC	breast
16	chr4:77154200-77155800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:77154200-77156000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:77154200-77156000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:77154200-77156000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:77154200-77156000	Active TSS	Fetal Intestine Large	intestine
21	chr4:77154200-77156200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:77154200-77159800	Enhancers	Stomach Mucosa	stomach
23	chr4:77154400-77155200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr4:77154400-77155200	Enhancers	Fetal Muscle Leg	muscle
25	chr4:77154400-77155800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr4:77154400-77155800	Active TSS	Fetal Intestine Small	intestine
27	chr4:77154400-77155800	Active TSS	Placenta	Placenta
28	chr4:77154400-77155800	Enhancers	Ovary	ovary
29	chr4:77154400-77156000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:77154400-77156000	Enhancers	Small Intestine	intestine
31	chr4:77154400-77156200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:77154600-77155200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr4:77154600-77155200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:77154600-77155600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:77154600-77156600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:77154800-77155000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr4:77154800-77155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:77154800-77155600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:77154800-77155800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:77154800-77155800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:77154800-77155800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:77154800-77155800	Active TSS	HepG2	liver
43	chr4:77154800-77156000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:77154800-77156000	Enhancers	Esophagus	oesophagus
45	chr4:77154800-77156000	Enhancers	Pancreas	Pancrea
46	chr4:77154800-77156000	Active TSS	A549	lung

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