Variant report

Variant	rs217750
Chromosome Location	chr11:16837788-16837789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16836174..16838648-chr11:16840399..16842526,3	MCF-7	breast:
2	chr11:16837352..16839360-chr11:17097590..17099219,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction

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

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

rs_ID	r²[population]
rs10832696	1.00[CHD][hapmap]
rs10832703	1.00[CHD][hapmap]
rs11601588	1.00[CHD][hapmap]
rs12362925	1.00[CHD][hapmap]
rs217749	0.82[EUR][1000 genomes]
rs217751	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs739936	1.00[CHD][hapmap]

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:88 , 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	chr11:16828400-16842000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:16829600-16840200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr11:16830800-16840200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:16831000-16839000	Strong transcription	Fetal Stomach	stomach
15	chr11:16831200-16839800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:16831600-16840000	Strong transcription	Gastric	stomach
17	chr11:16832000-16840000	Strong transcription	Esophagus	oesophagus
18	chr11:16832400-16841600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:16832400-16842000	Weak transcription	HSMM	muscle
20	chr11:16832600-16838000	Genic enhancers	Fetal Heart	heart
21	chr11:16832600-16841800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:16833000-16839400	Weak transcription	Fetal Brain Female	brain
23	chr11:16833400-16839800	Strong transcription	Pancreas	Pancrea
24	chr11:16833600-16847400	Weak transcription	Aorta	Aorta
25	chr11:16833800-16840000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:16834000-16838800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:16834600-16838200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:16834800-16837800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:16834800-16840400	Strong transcription	Fetal Intestine Large	intestine
30	chr11:16834800-16847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:16835000-16838600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:16835000-16839200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:16835200-16839000	Strong transcription	HepG2	liver
34	chr11:16835200-16839400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:16835200-16841800	Strong transcription	Fetal Intestine Small	intestine
36	chr11:16835400-16838200	Enhancers	Liver	Liver
37	chr11:16835600-16839400	Weak transcription	A549	lung
38	chr11:16835600-16840000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:16835800-16841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:16836000-16838600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:16836000-16861600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:16836200-16840000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:16836400-16839200	Strong transcription	Thymus	Thymus
44	chr11:16836600-16838600	Strong transcription	Lung	lung
45	chr11:16836800-16838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:16836800-16838400	Weak transcription	Colonic Mucosa	Colon
47	chr11:16836800-16838600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:16836800-16838600	Weak transcription	Left Ventricle	heart
49	chr11:16836800-16838800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:16836800-16838800	Weak transcription	Right Ventricle	heart

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