Variant report

Variant	rs7938644
Chromosome Location	chr11:46650073-46650074
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	chr11:46638349..46640594-chr11:46647371..46651789,4	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1037873	1.00[AMR][1000 genomes]
rs3136430	0.82[ASW][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs3136484	0.81[AFR][1000 genomes]
rs3136501	0.81[AFR][1000 genomes]
rs3136503	0.81[AFR][1000 genomes]
rs3136509	0.81[AFR][1000 genomes]
rs4995987	1.00[TSI][hapmap]
rs55762640	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56851661	1.00[AMR][1000 genomes]
rs58031860	1.00[AMR][1000 genomes]
rs7110413	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117944	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7121799	1.00[AMR][1000 genomes]
rs7342145	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7942150	1.00[AMR][1000 genomes]
rs7946071	1.00[AMR][1000 genomes]
rs7946801	0.82[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking 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	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46640000-46651400	Weak transcription	Gastric	stomach
2	chr11:46640000-46664200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:46640000-46670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:46640200-46651800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:46640600-46651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:46640600-46651800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:46640600-46651800	Weak transcription	Fetal Brain Male	brain
8	chr11:46640600-46667200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:46640600-46667200	Weak transcription	Psoas Muscle	Psoas
10	chr11:46640800-46651400	Weak transcription	NHDF-Ad	bronchial
11	chr11:46640800-46651800	Weak transcription	Fetal Kidney	kidney
12	chr11:46640800-46652200	Weak transcription	Small Intestine	intestine
13	chr11:46640800-46652600	Weak transcription	NH-A	brain
14	chr11:46640800-46653400	Weak transcription	HUVEC	blood vessel
15	chr11:46640800-46664400	Weak transcription	GM12878-XiMat	blood
16	chr11:46640800-46670600	Weak transcription	Fetal Heart	heart
17	chr11:46640800-46670800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:46640800-46673000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:46641000-46654400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:46641000-46657000	Strong transcription	Fetal Stomach	stomach
21	chr11:46641200-46651800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:46641200-46651800	Weak transcription	Ovary	ovary
23	chr11:46641200-46653800	Weak transcription	HMEC	breast
24	chr11:46641400-46653400	Strong transcription	Fetal Intestine Small	intestine
25	chr11:46641400-46667400	Weak transcription	Esophagus	oesophagus
26	chr11:46641600-46655800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:46641600-46662600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:46641600-46663800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:46641800-46660800	Weak transcription	Stomach Mucosa	stomach
30	chr11:46641800-46663200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:46641800-46680800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:46642000-46654400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:46642000-46685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:46642200-46650600	Weak transcription	Colonic Mucosa	Colon
35	chr11:46642200-46654400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:46642400-46650800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:46642400-46653200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:46642600-46654600	Strong transcription	Fetal Intestine Large	intestine
39	chr11:46643000-46653600	Strong transcription	Thymus	Thymus
40	chr11:46643000-46654200	Strong transcription	Primary T cells from cord blood	blood
41	chr11:46643000-46655800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:46643400-46651600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:46643400-46652800	Weak transcription	NHEK	skin
44	chr11:46643600-46690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:46644600-46667400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:46644800-46666800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:46646400-46653400	Strong transcription	Brain Germinal Matrix	brain
48	chr11:46646600-46650800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:46646600-46654000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:46647200-46651400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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