Variant report

Variant	rs11686311
Chromosome Location	chr2:152126235-152126236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59225610..59226257-chr2:152125893..152126396,2	NB4	blood:
2	chr2:152119643..152123039-chr2:152125145..152128347,3	MCF-7	breast:
3	chr2:152124835..152127070-chr2:152140941..152143645,2	K562	blood:
4	chr2:152124159..152126726-chr2:152137023..152139855,2	K562	blood:
5	chr2:150443805..150445365-chr2:152125156..152126729,2	K562	blood:

Variant related genes	Relation type
ENSG00000137776	Chromatin interaction
ENSG00000168288	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11683142	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11684212	1.00[ASN][1000 genomes]
rs11687405	1.00[ASN][1000 genomes]
rs11897895	1.00[ASN][1000 genomes]
rs1351928	1.00[ASN][1000 genomes]
rs1351929	1.00[ASN][1000 genomes]
rs1385424	1.00[ASN][1000 genomes]
rs17796869	1.00[ASN][1000 genomes]
rs1872389	1.00[ASN][1000 genomes]
rs55936601	1.00[ASN][1000 genomes]
rs58394140	1.00[ASN][1000 genomes]
rs60972942	1.00[ASN][1000 genomes]
rs6433196	1.00[ASN][1000 genomes]
rs73967499	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152118400-152126400	Weak transcription	Spleen	Spleen
2	chr2:152118600-152126400	Weak transcription	Lung	lung
3	chr2:152118600-152126600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:152118600-152133800	Weak transcription	Gastric	stomach
5	chr2:152118600-152142800	Weak transcription	Small Intestine	intestine
6	chr2:152118800-152126400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:152118800-152126400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:152118800-152126400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:152118800-152126400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:152118800-152126600	Weak transcription	Esophagus	oesophagus
11	chr2:152118800-152129800	Weak transcription	Colonic Mucosa	Colon
12	chr2:152118800-152130000	Weak transcription	Fetal Stomach	stomach
13	chr2:152118800-152130600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:152118800-152133800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:152118800-152134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:152118800-152144000	Weak transcription	Stomach Mucosa	stomach
17	chr2:152118800-152144200	Weak transcription	Psoas Muscle	Psoas
18	chr2:152119000-152126400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:152119000-152126400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:152119000-152126400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:152119000-152126400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:152119000-152126400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:152119000-152126400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:152119000-152126600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:152119000-152127000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:152119000-152129400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:152119000-152132000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:152119000-152133600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:152119000-152134200	Weak transcription	NHLF	lung
30	chr2:152119000-152137000	Weak transcription	Osteobl	bone
31	chr2:152119000-152145000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:152119000-152145200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:152119000-152145200	Weak transcription	NHEK	skin
34	chr2:152119000-152145800	Weak transcription	HSMM	muscle
35	chr2:152119200-152126400	Weak transcription	Primary T cells from cord blood	blood
36	chr2:152119200-152126400	Weak transcription	Adipose Nuclei	Adipose
37	chr2:152119200-152126600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:152119200-152126600	Weak transcription	Thymus	Thymus
39	chr2:152119200-152126600	Weak transcription	HUVEC	blood vessel
40	chr2:152119200-152127600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:152119200-152128800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:152119200-152133200	Weak transcription	NHDF-Ad	bronchial
43	chr2:152119200-152133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:152119400-152126400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:152119400-152126400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:152119400-152126400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:152119400-152126400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:152119400-152126400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:152119400-152126400	Weak transcription	Fetal Thymus	thymus
50	chr2:152119400-152126800	Weak transcription	Primary B cells from cord blood	blood

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