Variant report

Variant	rs4400757
Chromosome Location	chr11:46719799-46719800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46719787-46720552	K562	blood:	n/a	n/a
2	POLR2A	chr11:46718992-46723057	HepG2	liver:	n/a	n/a
3	MAFF	chr11:46719646-46719840	HepG2	liver:	n/a	chr11:46719725-46719743
4	MAFK	chr11:46719588-46719822	HepG2	liver:	n/a	chr11:46719727-46719742
5	MAFK	chr11:46719568-46719849	IMR90	lung:	n/a	chr11:46719727-46719742
6	MAFK	chr11:46719569-46719841	HepG2	liver:	n/a	chr11:46719727-46719742

No.	Distal block	Cell Line	Cell type
1	chr11:46693461..46695712-chr11:46719149..46721277,2	K562	blood:
2	chr11:46719204..46720865-chr11:46763113..46765630,2	K562	blood:
3	chr11:46719334..46721887-chr11:46846857..46848981,2	MCF-7	breast:
4	chr11:46141950..46143787-chr11:46718847..46721759,2	K562	blood:
5	chr11:46697477..46699020-chr11:46719350..46720930,2	K562	blood:
6	chr11:46714752..46720031-chr11:46720626..46723177,8	MCF-7	breast:
7	chr11:46687606..46689855-chr11:46719361..46722282,2	K562	blood:
8	chr11:46637809..46639630-chr11:46716383..46720215,3	K562	blood:

Variant related genes	Relation type
ZNF408	TF binding region
ARHGAP1	TF binding region
ENSG00000175224	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11038933	1.00[LWK][hapmap]
rs11601182	1.00[LWK][hapmap]
rs11820768	1.00[MEX][hapmap]
rs12285911	1.00[LWK][hapmap]
rs12576204	1.00[MEX][hapmap]
rs12797858	1.00[LWK][hapmap]
rs2306031	1.00[LWK][hapmap]
rs3136494	1.00[MEX][hapmap]
rs35314669	1.00[LWK][hapmap]
rs35569076	1.00[MEX][hapmap]
rs4423141	1.00[LWK][hapmap]
rs7124331	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:46702600-46721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:46703000-46721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:46707800-46719800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:46714200-46720200	Weak transcription	A549	lung
6	chr11:46714600-46720600	Genic enhancers	Placenta	Placenta
7	chr11:46715000-46719800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:46715200-46721200	Genic enhancers	Fetal Muscle Leg	muscle
9	chr11:46715400-46720000	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr11:46715600-46720400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:46717000-46721000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:46717400-46720400	Enhancers	HepG2	liver
13	chr11:46717400-46720600	Weak transcription	Hela-S3	cervix
14	chr11:46717400-46720800	Enhancers	Psoas Muscle	Psoas
15	chr11:46717400-46721200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:46717400-46721200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:46717400-46721200	Weak transcription	Fetal Kidney	kidney
18	chr11:46717400-46721200	Enhancers	Left Ventricle	heart
19	chr11:46717400-46721400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:46717600-46720200	Weak transcription	GM12878-XiMat	blood
21	chr11:46717600-46720800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:46717600-46720800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:46717600-46720800	Weak transcription	HUVEC	blood vessel
24	chr11:46717600-46721200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:46717600-46721200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:46717800-46720200	Weak transcription	NHEK	skin
27	chr11:46717800-46720800	Enhancers	Liver	Liver
28	chr11:46717800-46721200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:46718000-46720400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:46718000-46720600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:46718000-46720600	Weak transcription	Fetal Lung	lung
32	chr11:46718000-46720800	Enhancers	Right Ventricle	heart
33	chr11:46718000-46721200	Weak transcription	Aorta	Aorta
34	chr11:46718000-46721200	Enhancers	Esophagus	oesophagus
35	chr11:46718000-46721200	Enhancers	Ovary	ovary
36	chr11:46718000-46721400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:46718200-46720000	Weak transcription	Fetal Thymus	thymus
38	chr11:46718200-46720200	Enhancers	HSMM	muscle
39	chr11:46718200-46720600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:46718200-46720800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:46718200-46720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:46718400-46721200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:46718400-46721200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:46718600-46719800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:46718600-46719800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:46718600-46719800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:46718600-46719800	Flanking Active TSS	Fetal Heart	heart
48	chr11:46718600-46719800	Genic enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:46718600-46720200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:46718600-46720200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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