Variant report

Variant	rs5030419
Chromosome Location	chr11:36530743-36530744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr11:36530634-36530761	K562	blood:	n/a	n/a
2	POLR2A	chr11:36530309-36532253	GM12891	blood:	n/a	n/a
3	BRCA1	chr11:36530478-36531228	Hela-S3	cervix:	n/a	n/a
4	MYC	chr11:36530492-36532533	K562	blood:	n/a	n/a
5	EP300	chr11:36530742-36531034	K562	blood:	n/a	n/a
6	IRF1	chr11:36529922-36531191	K562	blood:	n/a	chr11:36530227-36530238 chr11:36530224-36530238 chr11:36530224-36530237 chr11:36530223-36530237 chr11:36530224-36530237 chr11:36530226-36530236 chr11:36530114-36530123
7	JUN	chr11:36530721-36532607	K562	blood:	n/a	n/a
8	MTA3	chr11:36530584-36532279	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:36530094-36531046	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr11:36530677-36531081	GM12878	blood:	n/a	n/a
11	MAZ	chr11:36530198-36532469	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:36530266-36532314	PBDE	blood:	n/a	n/a
13	POLR2A	chr11:36530659-36532110	IMR90	lung:	n/a	n/a
14	MAZ	chr11:36530253-36532203	K562	blood:	n/a	n/a
15	KAP1	chr11:36530587-36530968	K562	blood:	n/a	n/a
16	POLR2A	chr11:36530512-36532299	K562	blood:	n/a	n/a
17	TBL1XR1	chr11:36530588-36531074	K562	blood:	n/a	n/a
18	MYC	chr11:36530442-36530958	MCF10A-Er-Src	breast:	n/a	n/a
19	HCFC1	chr11:36530167-36532549	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr11:36530265-36532522	IMR90	lung:	n/a	n/a
21	POLR2A	chr11:36530512-36532165	Hela-S3	cervix:	n/a	n/a
22	ZNF384	chr11:36530568-36532096	K562	blood:	n/a	n/a
23	CTCF	chr11:36530732-36531065	K562	blood:	n/a	n/a
24	RELA	chr11:36530437-36531211	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:36530329..36533204-chr11:36533479..36537074,4	K562	blood:
2	chr11:36530595..36532345-chr11:43379356..43380877,2	K562	blood:
3	chr11:36530300..36533244-chr11:36535692..36537195,2	MCF-7	breast:
4	chr11:36309810..36312786-chr11:36530434..36531939,2	MCF-7	breast:

Variant related genes	Relation type
RAG1	TF binding region
ENSG00000052841	Chromatin interaction
ENSG00000166349	Chromatin interaction
ENSG00000254907	Chromatin interaction
ENSG00000110442	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11033695	0.84[CEU][hapmap]
rs11033698	0.81[CEU][hapmap]
rs11033699	0.81[CEU][hapmap]
rs12225867	0.86[CEU][hapmap]
rs1356049	0.86[CEU][hapmap]
rs1399602	0.86[CEU][hapmap]
rs1515060	0.86[CEU][hapmap]
rs2422294	0.86[CEU][hapmap]
rs4151002	0.86[CEU][hapmap]
rs5030416	0.90[CEU][hapmap]

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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36512200-36530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:36514000-36530800	Weak transcription	Small Intestine	intestine
3	chr11:36529600-36530800	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr11:36529600-36530800	Flanking Active TSS	Dnd41	blood
5	chr11:36529600-36532400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:36529600-36532400	Active TSS	Psoas Muscle	Psoas
7	chr11:36529600-36532600	Active TSS	Right Ventricle	heart
8	chr11:36529800-36530800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr11:36529800-36530800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:36529800-36531000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:36529800-36531000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:36529800-36531000	Flanking Active TSS	Osteobl	bone
13	chr11:36529800-36531200	Active TSS	Right Atrium	heart
14	chr11:36529800-36532200	Active TSS	GM12878-XiMat	blood
15	chr11:36529800-36532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:36529800-36532400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:36529800-36532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:36529800-36532600	Active TSS	Fetal Intestine Large	intestine
19	chr11:36529800-36532600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:36530000-36530800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:36530000-36531000	Flanking Active TSS	Liver	Liver
22	chr11:36530000-36531000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr11:36530000-36531200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:36530000-36531200	Flanking Active TSS	Fetal Brain Female	brain
25	chr11:36530000-36532400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:36530000-36532400	Active TSS	Aorta	Aorta
27	chr11:36530000-36532400	Active TSS	Fetal Intestine Small	intestine
28	chr11:36530000-36532400	Active TSS	Left Ventricle	heart
29	chr11:36530000-36532400	Active TSS	Stomach Smooth Muscle	stomach
30	chr11:36530000-36532400	Active TSS	HSMM	muscle
31	chr11:36530000-36532400	Active TSS	NHDF-Ad	bronchial
32	chr11:36530000-36532600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:36530000-36532600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:36530000-36532800	Active TSS	K562	blood
35	chr11:36530200-36530800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:36530200-36531000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr11:36530200-36531000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:36530200-36531000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr11:36530200-36531200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:36530200-36532000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:36530200-36532000	Active TSS	HSMMtube	muscle
42	chr11:36530200-36532400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:36530200-36532400	Active TSS	Ovary	ovary
44	chr11:36530200-36532400	Active TSS	HMEC	breast
45	chr11:36530200-36532400	Active TSS	NHLF	lung
46	chr11:36530200-36532600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:36530200-36532600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:36530200-36532600	Active TSS	Fetal Muscle Trunk	muscle
49	chr11:36530200-36532800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:36530400-36530800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links