Variant report

Variant	rs12284731
Chromosome Location	chr11:73727966-73727967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73692695..73694279-chr11:73727218..73729337,2	K562	blood:
2	chr11:73720266..73722742-chr11:73727653..73729816,3	K562	blood:
3	chr11:73725519..73728147-chr11:73728778..73731606,2	MCF-7	breast:
4	chr11:73726799..73729660-chr11:73730296..73732762,2	MCF-7	breast:
5	chr11:73692496..73695523-chr11:73726930..73730981,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175564	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10219224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235973	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282836	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132567	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229707	1.00[EUR][1000 genomes]
rs7126381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
4	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
5	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
11	chr11:73715000-73729800	Weak transcription	Ovary	ovary
12	chr11:73716400-73728000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:73718600-73728800	Weak transcription	Liver	Liver
14	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:73720400-73728000	Weak transcription	HepG2	liver
16	chr11:73721200-73731600	Strong transcription	Fetal Brain Female	brain
17	chr11:73721400-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:73721600-73729000	Strong transcription	Fetal Intestine Small	intestine
19	chr11:73721600-73729600	Strong transcription	Fetal Stomach	stomach
20	chr11:73721600-73729800	Weak transcription	HMEC	breast
21	chr11:73721600-73731400	Strong transcription	Brain Germinal Matrix	brain
22	chr11:73721800-73729200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:73721800-73730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:73722200-73728000	Strong transcription	Fetal Intestine Large	intestine
27	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:73722400-73729800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:73722400-73731600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73722600-73728200	Strong transcription	HSMMtube	muscle
31	chr11:73722600-73729000	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:73722800-73728800	Strong transcription	Placenta	Placenta
33	chr11:73722800-73729000	Weak transcription	Colonic Mucosa	Colon
34	chr11:73723000-73728000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr11:73723000-73728000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:73723000-73728200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:73723000-73728600	Weak transcription	Psoas Muscle	Psoas
38	chr11:73723000-73729200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:73723200-73728000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:73723200-73728400	Enhancers	K562	blood
41	chr11:73723200-73729200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:73723200-73729200	Weak transcription	NHLF	lung
43	chr11:73723400-73729200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:73723400-73729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73723600-73728200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:73723600-73729000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:73723800-73728600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:73724000-73728800	Strong transcription	Brain Hippocampus Middle	brain
49	chr11:73724200-73728600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:73724200-73729600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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