Variant report

Variant	rs511170
Chromosome Location	chr11:121330375-121330376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121330064..121332974-chr11:121346405..121349549,4	MCF-7	breast:
2	chr11:121328578..121330847-chr11:121337698..121340235,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1784926	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512892	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs539842	1.00[AMR][1000 genomes]
rs593684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs599920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610188	1.00[AMR][1000 genomes]
rs610258	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898427	chr11:121299288-121411041	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121323600-121334600	Weak transcription	Aorta	Aorta
2	chr11:121323800-121335000	Weak transcription	Left Ventricle	heart
3	chr11:121323800-121336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:121323800-121336800	Weak transcription	Gastric	stomach
5	chr11:121324200-121335200	Weak transcription	Right Atrium	heart
6	chr11:121324800-121330600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:121324800-121333600	Weak transcription	NHEK	skin
8	chr11:121324800-121333800	Weak transcription	HMEC	breast
9	chr11:121325000-121330600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:121325000-121331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:121325000-121333600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:121325000-121335200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:121325000-121336800	Weak transcription	Colonic Mucosa	Colon
14	chr11:121325200-121331600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:121325400-121338000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:121325600-121335000	Weak transcription	Esophagus	oesophagus
17	chr11:121326200-121332800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:121326200-121334600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:121326200-121335200	Weak transcription	Fetal Brain Male	brain
20	chr11:121326800-121330600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr11:121326800-121330600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:121327000-121330600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:121327000-121330800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:121327200-121334400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:121327400-121330800	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:121327600-121334400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:121328000-121335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:121328400-121330800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
29	chr11:121328600-121334200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:121328600-121334800	Weak transcription	Fetal Brain Female	brain
31	chr11:121328600-121335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:121328800-121335000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:121329000-121334400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:121329200-121331000	Flanking Active TSS	HepG2	liver
35	chr11:121329200-121332400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:121329400-121330800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr11:121329400-121331800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:121329400-121333600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:121329600-121330400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:121329600-121330800	Enhancers	Brain Substantia Nigra	brain
41	chr11:121329600-121332000	Enhancers	Stomach Mucosa	stomach
42	chr11:121329600-121332600	Enhancers	Fetal Thymus	thymus
43	chr11:121329600-121333200	Enhancers	Fetal Intestine Large	intestine
44	chr11:121329800-121330400	Flanking Active TSS	Liver	Liver
45	chr11:121329800-121330400	Genic enhancers	Dnd41	blood
46	chr11:121329800-121330600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr11:121329800-121330800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
48	chr11:121329800-121330800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr11:121329800-121330800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:121329800-121330800	Enhancers	Brain Cingulate Gyrus	brain

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