Variant report

Variant	rs35348557
Chromosome Location	chr12:49502957-49502958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr12:49502738-49502995	HepG2	liver:	n/a	chr12:49502839-49502854
2	MYC	chr12:49502739-49503264	K562	blood:	n/a	n/a
3	HCFC1	chr12:49502367-49505574	Hela-S3	cervix:	n/a	n/a
4	ZKSCAN1	chr12:49502767-49503153	Hela-S3	cervix:	n/a	n/a
5	CUX1	chr12:49502647-49503350	K562	blood:	n/a	n/a
6	MYC	chr12:49502689-49503298	K562	blood:	n/a	n/a
7	CBX3	chr12:49502614-49503349	K562	blood:	n/a	n/a
8	CEBPB	chr12:49502621-49503028	A549	lung:	n/a	n/a
9	POLR2A	chr12:49502672-49503322	PFSK-1	brain:	n/a	n/a
10	REST	chr12:49502724-49503079	K562	blood:	n/a	chr12:49503016-49503025 chr12:49502867-49502887
11	MAX	chr12:49502674-49503284	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr12:49502507-49505354	IMR90	lung:	n/a	chr12:49504015-49504025 chr12:49503402-49503411
13	MAZ	chr12:49502737-49503278	K562	blood:	n/a	n/a
14	MAX	chr12:49502749-49503208	K562	blood:	n/a	n/a
15	POLR2A	chr12:49502762-49503239	K562	blood:	n/a	n/a
16	REST	chr12:49502709-49503202	PFSK-1	brain:	n/a	chr12:49503016-49503025 chr12:49502867-49502887
17	CEBPB	chr12:49502631-49503167	IMR90	lung:	n/a	n/a
18	MXI1	chr12:49502723-49503925	IMR90	lung:	n/a	n/a
19	NR2F2	chr12:49502625-49503050	K562	blood:	n/a	n/a
20	RCOR1	chr12:49502677-49503181	K562	blood:	n/a	n/a
21	MXI1	chr12:49502797-49503238	K562	blood:	n/a	n/a
22	IRF1	chr12:49502662-49503036	K562	blood:	n/a	n/a
23	JUND	chr12:49502671-49503291	K562	blood:	n/a	n/a
24	BRCA1	chr12:49502876-49502975	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr12:49502645-49503231	K562	blood:	n/a	n/a
26	CEBPB	chr12:49502628-49503023	HepG2	liver:	n/a	n/a
27	CHD2	chr12:49502894-49503096	Hela-S3	cervix:	n/a	n/a
28	EGR1	chr12:49502673-49502996	K562	blood:	n/a	n/a
29	NFYA	chr12:49502780-49503052	Hela-S3	cervix:	n/a	n/a
30	SMC3	chr12:49502719-49503158	Hela-S3	cervix:	n/a	chr12:49502912-49502922
31	REST	chr12:49502910-49503153	Hela-S3	cervix:	n/a	chr12:49503016-49503025
32	UBTF	chr12:49502762-49503204	K562	blood:	n/a	n/a
33	IRF1	chr12:49502663-49503229	K562	blood:	n/a	n/a
34	CEBPB	chr12:49502618-49503038	HepG2	liver:	n/a	n/a
35	RFX5	chr12:49502660-49503120	Hela-S3	cervix:	n/a	n/a
36	YY1	chr12:49502786-49503019	K562	blood:	n/a	n/a
37	TBP	chr12:49502686-49503023	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr12:49502577-49503296	Hela-S3	cervix:	n/a	n/a
39	KAP1	chr12:49502556-49503427	HEK293	kidney:	n/a	n/a
40	EP300	chr12:49502597-49503382	K562	blood:	n/a	n/a
41	MYC	chr12:49502921-49502983	K562	blood:	n/a	n/a
42	CEBPB	chr12:49502475-49503299	K562	blood:	n/a	n/a
43	CEBPD	chr12:49502668-49503006	HepG2	liver:	n/a	n/a
44	SMARCC1	chr12:49502626-49503836	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr12:49502795-49503291	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr12:49502501-49503120	A549	lung:	n/a	n/a
47	MAX	chr12:49502669-49503319	K562	blood:	n/a	n/a
48	CEBPD	chr12:49502536-49503188	K562	blood:	n/a	n/a
49	TEAD4	chr12:49502500-49503400	K562	blood:	n/a	n/a
50	ATF1	chr12:49502674-49503305	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49499760..49506124-chr12:49657415..49661017,8	K562	blood:
2	chr12:49501897..49506471-chr12:49657604..49660787,6	MCF-7	breast:
3	chr12:49497954..49506685-chr12:49522695..49526444,13	MCF-7	breast:
4	chr12:49500412..49506796-chr12:49520694..49526646,13	MCF-7	breast:
5	chr12:49500184..49504763-chr12:49658087..49663330,8	K562	blood:
6	chr12:49481573..49488751-chr12:49501255..49506032,14	K562	blood:
7	chr12:49452282..49457106-chr12:49501761..49505806,6	K562	blood:
8	chr12:49497683..49501522-chr12:49502793..49506157,6	MCF-7	breast:
9	chr12:49448339..49452151-chr12:49502290..49505835,5	K562	blood:
10	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
11	chr12:49484670..49486982-chr12:49502782..49505716,3	MCF-7	breast:
12	chr12:49462517..49467862-chr12:49502773..49505660,4	MCF-7	breast:
13	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
14	chr12:49501695..49503202-chr12:49519959..49522381,2	MCF-7	breast:
15	chr12:49494225..49496227-chr12:49501193..49504636,3	K562	blood:

No data

Variant related genes	Relation type
LMBR1L	TF binding region
ENSG00000258017	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000139549	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11833860	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49490000-49503000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:49498800-49503000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:49499800-49503000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:49500600-49503000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:49500800-49503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:49501200-49503000	Enhancers	Fetal Thymus	thymus
7	chr12:49501400-49503000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:49501400-49503200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:49501600-49503000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:49501600-49503000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:49501800-49503000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:49501800-49503000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:49501800-49503200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:49502200-49503800	Enhancers	Spleen	Spleen
15	chr12:49502400-49503000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:49502400-49503000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:49502400-49503000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:49502400-49503000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:49502400-49503000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:49502400-49503000	Enhancers	Fetal Lung	lung
21	chr12:49502400-49503200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:49502400-49503400	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:49502400-49503400	Enhancers	Placenta	Placenta
24	chr12:49502400-49503400	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr12:49502400-49503600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:49502400-49503600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr12:49502400-49503600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:49502400-49503600	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr12:49502400-49503600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr12:49502400-49503600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr12:49502400-49503600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:49502400-49503800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:49502400-49503800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:49502400-49503800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr12:49502400-49503800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr12:49502400-49503800	Flanking Active TSS	K562	blood
37	chr12:49502400-49504000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:49502400-49504000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:49502400-49504000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:49502400-49504000	Flanking Active TSS	Hela-S3	cervix
41	chr12:49502400-49504000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:49502600-49503000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:49502600-49503000	Enhancers	Primary T cells from cord blood	blood
44	chr12:49502600-49503000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:49502600-49503000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:49502600-49503000	Enhancers	HMEC	breast
47	chr12:49502600-49503000	Enhancers	NH-A	brain
48	chr12:49502600-49503000	Enhancers	NHEK	skin
49	chr12:49502600-49503200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:49502600-49503200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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