Variant report

Variant	rs11133469
Chromosome Location	chr4:57809045-57809046
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	chr4:57803794..57806206-chr4:57808007..57809597,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12641030	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13108570	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130605	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830501	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830774	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680140	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697176	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
4	chr4:57798000-57809400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:57798000-57814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:57798200-57809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:57798200-57811800	Weak transcription	Esophagus	oesophagus
8	chr4:57798200-57828400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:57798200-57829600	Weak transcription	Pancreas	Pancrea
10	chr4:57798400-57810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:57798400-57811800	Weak transcription	Fetal Kidney	kidney
12	chr4:57798400-57814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:57798400-57828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:57798600-57828200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:57800200-57811000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:57800400-57809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:57803800-57828400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:57804200-57810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:57804200-57824200	Weak transcription	NH-A	brain
20	chr4:57804400-57811600	Weak transcription	NHEK	skin
21	chr4:57804600-57809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:57804800-57812400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:57804800-57826600	Weak transcription	Liver	Liver
24	chr4:57805000-57809600	Weak transcription	Fetal Thymus	thymus
25	chr4:57805000-57830800	Weak transcription	Colonic Mucosa	Colon
26	chr4:57805200-57810000	Weak transcription	HSMM	muscle
27	chr4:57805200-57812200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:57805400-57809200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:57805400-57809200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:57805400-57809600	Weak transcription	Primary B cells from cord blood	blood
31	chr4:57805400-57810400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:57805400-57810800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:57805400-57826400	Weak transcription	Primary T cells from cord blood	blood
34	chr4:57805600-57814200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:57805600-57826600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:57805800-57827400	Weak transcription	Placenta	Placenta
37	chr4:57806000-57810200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:57806000-57810400	Weak transcription	Fetal Intestine Small	intestine
39	chr4:57806000-57814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:57806000-57814800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:57806000-57827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:57806000-57827200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:57806000-57827200	Weak transcription	Thymus	Thymus
44	chr4:57806200-57809400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:57806200-57810600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:57806200-57813600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:57806200-57826600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:57806200-57827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:57806400-57809600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:57806400-57811600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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