Variant report

Variant	rs2237949
Chromosome Location	chr11:17833064-17833065
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	chr11:17802523..17804116-chr11:17831830..17833743,2	MCF-7	breast:
2	chr11:17823576..17826889-chr11:17829759..17833137,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005711	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548528	0.85[YRI][hapmap]
rs16934718	1.00[EUR][1000 genomes]
rs2079228	0.85[ASN][1000 genomes]
rs2237944	0.93[YRI][hapmap]
rs2237948	0.96[YRI][hapmap]
rs6486398	0.93[YRI][hapmap]
rs718439	0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
4	chr11:17808800-17834600	Weak transcription	Aorta	Aorta
5	chr11:17809000-17833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:17815600-17841400	Weak transcription	HepG2	liver
7	chr11:17818600-17843200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:17825400-17843400	Weak transcription	Lung	lung
9	chr11:17829200-17833400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:17829400-17833400	Weak transcription	Gastric	stomach
11	chr11:17829400-17833600	Weak transcription	Fetal Intestine Large	intestine
12	chr11:17829800-17833400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:17831000-17836200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:17831200-17834400	Enhancers	Brain Hippocampus Middle	brain
15	chr11:17831200-17837000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:17831200-17849400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:17831400-17834400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:17831600-17833200	Enhancers	Right Atrium	heart
19	chr11:17831600-17834000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:17831600-17835600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:17831600-17836400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:17831800-17833600	Enhancers	HMEC	breast
23	chr11:17831800-17833800	Enhancers	Fetal Heart	heart
24	chr11:17831800-17834600	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:17831800-17835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:17831800-17835600	Enhancers	Left Ventricle	heart
27	chr11:17832000-17833600	Weak transcription	Fetal Kidney	kidney
28	chr11:17832000-17833600	Enhancers	NHEK	skin
29	chr11:17832000-17834600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:17832000-17834600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:17832000-17834800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:17832000-17849600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:17832200-17833200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:17832200-17833600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:17832200-17834000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:17832200-17834200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:17832200-17835000	Enhancers	Brain Angular Gyrus	brain
38	chr11:17832200-17835200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:17832200-17835400	Enhancers	Placenta	Placenta
40	chr11:17832200-17835600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr11:17832200-17835800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:17832200-17835800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:17832400-17835000	Enhancers	Brain Cingulate Gyrus	brain
44	chr11:17832400-17835600	Enhancers	Brain Anterior Caudate	brain
45	chr11:17832400-17835600	Enhancers	Fetal Brain Male	brain
46	chr11:17832400-17836400	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:17832400-17838600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:17832600-17833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:17832600-17833400	Weak transcription	Brain Substantia Nigra	brain
50	chr11:17832600-17833400	Weak transcription	Esophagus	oesophagus

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