Variant report

Variant	rs217749
Chromosome Location	chr11:16836517-16836518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:16835996-16837032	HL-60	blood:	n/a	n/a
2	TCF12	chr11:16836462-16837184	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr11:16836388-16837223	H1-neurons	neurons:	n/a	n/a
4	NFIC	chr11:16836500-16837098	ECC-1	luminal epithelium:	n/a	n/a
5	REST	chr11:16836465-16837401	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr11:16835875-16837046	HL-60	blood:	n/a	n/a
7	SPI1	chr11:16835780-16836548	HL-60	blood:	n/a	n/a
8	NFIC	chr11:16836444-16837224	ECC-1	luminal epithelium:	n/a	n/a
9	MYC	chr11:16836145-16837082	NB4	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16836174..16838648-chr11:16840399..16842526,3	MCF-7	breast:
2	chr11:16824702..16826305-chr11:16835048..16836691,2	K562	blood:

No data

Variant related genes	Relation type
PLEKHA7	TF binding region
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs217750	0.82[EUR][1000 genomes]
rs217751	0.82[EUR][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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16797200-16837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:16799000-16842200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:16803800-16842000	Weak transcription	Fetal Kidney	kidney
4	chr11:16813200-16871400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:16822800-16840200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:16822800-16840200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:16823000-16871400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:16823200-16837800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:16826600-16841800	Weak transcription	Hela-S3	cervix
10	chr11:16826600-16842000	Weak transcription	Ovary	ovary
11	chr11:16826800-16837000	Weak transcription	Stomach Mucosa	stomach
12	chr11:16828400-16842000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:16828600-16836600	Weak transcription	Lung	lung
14	chr11:16829600-16840200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:16830800-16837200	Enhancers	Brain Anterior Caudate	brain
16	chr11:16830800-16840200	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:16831000-16839000	Strong transcription	Fetal Stomach	stomach
18	chr11:16831200-16839800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:16831600-16840000	Strong transcription	Gastric	stomach
20	chr11:16832000-16840000	Strong transcription	Esophagus	oesophagus
21	chr11:16832400-16836600	Weak transcription	HSMMtube	muscle
22	chr11:16832400-16841600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:16832400-16842000	Weak transcription	HSMM	muscle
24	chr11:16832600-16837600	Weak transcription	HMEC	breast
25	chr11:16832600-16838000	Genic enhancers	Fetal Heart	heart
26	chr11:16832600-16841800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:16833000-16836600	Weak transcription	Brain Germinal Matrix	brain
28	chr11:16833000-16836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:16833000-16839400	Weak transcription	Fetal Brain Female	brain
30	chr11:16833400-16839800	Strong transcription	Pancreas	Pancrea
31	chr11:16833600-16847400	Weak transcription	Aorta	Aorta
32	chr11:16833800-16840000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:16834000-16838800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:16834200-16837200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:16834400-16836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:16834400-16836600	Weak transcription	Brain Angular Gyrus	brain
37	chr11:16834400-16836600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:16834600-16838200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:16834800-16836600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:16834800-16837000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:16834800-16837600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:16834800-16837800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:16834800-16840400	Strong transcription	Fetal Intestine Large	intestine
44	chr11:16834800-16847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:16835000-16838600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:16835000-16839200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:16835200-16836800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr11:16835200-16837000	Enhancers	Fetal Brain Male	brain
49	chr11:16835200-16839000	Strong transcription	HepG2	liver
50	chr11:16835200-16839400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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