Variant report

Variant	rs626618
Chromosome Location	chr11:68141162-68141163
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68138033..68141463-chr11:68144813..68147570,3	K562	blood:
2	chr11:68038322..68041285-chr11:68139391..68142099,2	MCF-7	breast:
3	chr11:68098299..68100992-chr11:68139292..68141681,2	K562	blood:
4	chr11:68139963..68143700-chr11:68143791..68147570,5	K562	blood:

Variant related genes	Relation type
ENSG00000171067	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55640445	1.00[EUR][1000 genomes]
rs60240146	1.00[EUR][1000 genomes]
rs656583	1.00[EUR][1000 genomes]
rs7930605	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68121600-68148200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:68121800-68156400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:68124800-68146600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:68128200-68153800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:68129800-68153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:68131800-68143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:68135200-68147600	Weak transcription	Primary T cells from cord blood	blood
8	chr11:68135200-68153400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:68135200-68153600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:68136000-68142000	Weak transcription	NHEK	skin
11	chr11:68136200-68153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:68136600-68143600	Enhancers	Placenta	Placenta
13	chr11:68136600-68145600	Enhancers	Left Ventricle	heart
14	chr11:68136800-68141200	Enhancers	Aorta	Aorta
15	chr11:68136800-68141400	Enhancers	Right Ventricle	heart
16	chr11:68136800-68142000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:68136800-68143400	Enhancers	Fetal Heart	heart
18	chr11:68136800-68152800	Weak transcription	Dnd41	blood
19	chr11:68137000-68141200	Enhancers	Colon Smooth Muscle	Colon
20	chr11:68137000-68156400	Weak transcription	K562	blood
21	chr11:68137200-68141200	Enhancers	Rectal Smooth Muscle	rectum
22	chr11:68137400-68143600	Genic enhancers	Duodenum Mucosa	Duodenum
23	chr11:68137600-68142400	Enhancers	Liver	Liver
24	chr11:68137800-68141400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:68137800-68141600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr11:68137800-68141800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:68138200-68142600	Genic enhancers	Fetal Intestine Small	intestine
28	chr11:68138400-68141800	Weak transcription	Fetal Kidney	kidney
29	chr11:68138400-68142600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:68138600-68141400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:68138600-68141400	Weak transcription	Fetal Thymus	thymus
32	chr11:68138800-68141400	Weak transcription	HUVEC	blood vessel
33	chr11:68138800-68143600	Enhancers	Right Atrium	heart
34	chr11:68139000-68141200	Enhancers	Brain Hippocampus Middle	brain
35	chr11:68139000-68142800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:68139200-68141200	Weak transcription	NH-A	brain
37	chr11:68139200-68142800	Enhancers	Primary B cells from cord blood	blood
38	chr11:68139200-68144400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:68139200-68145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:68139400-68141200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:68139600-68141200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:68139600-68156400	Weak transcription	Hela-S3	cervix
43	chr11:68139800-68142400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:68139800-68143200	Enhancers	Ovary	ovary
45	chr11:68140000-68141600	Enhancers	Fetal Intestine Large	intestine
46	chr11:68140000-68142400	Enhancers	HSMMtube	muscle
47	chr11:68140000-68142800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:68140000-68143000	Enhancers	Fetal Lung	lung
49	chr11:68140000-68143400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:68140000-68144600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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