Variant report

Variant	rs12578040
Chromosome Location	chr11:76032819-76032820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75924146..75926385-chr11:76032779..76035393,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12576140	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156714	0.85[AMR][1000 genomes]
rs7112778	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112895	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7118334	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127263	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7946197	1.00[EUR][1000 genomes]
rs7946578	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	esv989053	chr11:76027846-76039082	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76028800-76033400	Weak transcription	Hela-S3	cervix
2	chr11:76032200-76033400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:76032200-76033600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:76032200-76034200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr11:76032400-76033400	Active TSS	Pancreas	Pancrea
6	chr11:76032600-76033000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:76032600-76033200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:76032600-76033200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr11:76032600-76033400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:76032600-76033400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:76032600-76033600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr11:76032600-76033600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr11:76032600-76033600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:76032600-76033600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:76032600-76033600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:76032600-76033600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
17	chr11:76032600-76033800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:76032600-76033800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:76032800-76033000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr11:76032800-76033000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:76032800-76033000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:76032800-76033000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr11:76032800-76033000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr11:76032800-76033000	Bivalent Enhancer	Brain Hippocampus Middle	brain
31	chr11:76032800-76033000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
33	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr11:76032800-76033000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr11:76032800-76033000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr11:76032800-76033000	Flanking Active TSS	Right Ventricle	heart
38	chr11:76032800-76033200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:76032800-76033200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:76032800-76033200	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr11:76032800-76033200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:76032800-76033200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:76032800-76033200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:76032800-76033200	Bivalent/Poised TSS	Colonic Mucosa	Colon
45	chr11:76032800-76033200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr11:76032800-76033200	Bivalent Enhancer	Fetal Stomach	stomach
47	chr11:76032800-76033200	Bivalent Enhancer	Psoas Muscle	Psoas
48	chr11:76032800-76033200	Bivalent Enhancer	Thymus	Thymus
49	chr11:76032800-76033400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:76032800-76033400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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