Variant report

Variant	rs4603265
Chromosome Location	chr11:46708196-46708197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46705584..46707341-chr11:46707630..46709202,2	K562	blood:
2	chr11:46704275..46710507-chr11:46714249..46719303,8	MCF-7	breast:
3	chr11:46699401..46701955-chr11:46706873..46709841,3	K562	blood:
4	chr11:46682346..46685805-chr11:46707904..46710908,3	K562	blood:
5	chr11:46402025..46404736-chr11:46705733..46709405,3	K562	blood:
6	chr11:46707012..46709465-chr11:46710044..46712629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10838612	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038977	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11602537	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11604876	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12574512	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1799867	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2070850	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3136441	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3136449	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3136457	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3136458	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3136460	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3136499	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4076557	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4491174	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752927	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4752931	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4752932	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57704144	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58561056	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58922799	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5896	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61337452	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
3	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:46697800-46709200	Strong transcription	Fetal Stomach	stomach
6	chr11:46698000-46708800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:46698000-46708800	Strong transcription	Stomach Smooth Muscle	stomach
8	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:46698200-46708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:46698400-46709000	Weak transcription	Fetal Kidney	kidney
11	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:46699200-46715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:46699200-46716400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:46699200-46717000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:46699200-46717200	Strong transcription	Liver	Liver
16	chr11:46699200-46719000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:46699800-46715200	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:46700400-46708400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:46700400-46714000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:46700400-46718800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:46700600-46715400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:46701000-46709000	Weak transcription	GM12878-XiMat	blood
23	chr11:46701400-46710600	Strong transcription	Fetal Intestine Small	intestine
24	chr11:46701800-46709000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:46701800-46715400	Weak transcription	K562	blood
26	chr11:46701800-46718600	Strong transcription	Fetal Intestine Large	intestine
27	chr11:46702000-46708600	Weak transcription	Psoas Muscle	Psoas
28	chr11:46702000-46715800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:46702600-46708800	Weak transcription	NH-A	brain
30	chr11:46702600-46721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:46702800-46716000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:46702800-46716600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:46702800-46718400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:46703000-46715000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:46703000-46715200	Weak transcription	Hela-S3	cervix
36	chr11:46703000-46721400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:46703200-46708200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:46703400-46716400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:46703600-46708400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:46703600-46713400	Weak transcription	Ovary	ovary
41	chr11:46703800-46708400	Weak transcription	Aorta	Aorta
42	chr11:46703800-46708400	Weak transcription	Esophagus	oesophagus
43	chr11:46703800-46708400	Weak transcription	Left Ventricle	heart
44	chr11:46703800-46708400	Weak transcription	Stomach Mucosa	stomach
45	chr11:46703800-46714000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:46704400-46716800	Weak transcription	Small Intestine	intestine
47	chr11:46704800-46710200	Genic enhancers	Brain Hippocampus Middle	brain
48	chr11:46705000-46708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:46705000-46708400	Weak transcription	Colonic Mucosa	Colon
50	chr11:46705200-46708400	Weak transcription	Fetal Brain Female	brain

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