Variant report

Variant	rs11232299
Chromosome Location	chr11:70864043-70864044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:70862325..70865050-chr11:70958475..70960987,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10751032	1.00[ASN][1000 genomes]
rs10897639	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10897640	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10897641	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10897642	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11232205	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232208	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232209	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232210	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232214	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232217	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232226	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232227	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232230	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272719	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276523	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278819	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280157	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281887	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12282261	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12286150	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12287456	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293485	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12294761	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336	0.84[AMR][1000 genomes]
rs57067273	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57989516	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58061852	0.84[AMR][1000 genomes]
rs59963161	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591903	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105616	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73523256	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73523258	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946431	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70832200-70864400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:70858200-70891000	Weak transcription	Gastric	stomach
3	chr11:70858600-70865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:70860600-70864400	Weak transcription	Fetal Kidney	kidney
5	chr11:70862600-70864200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:70863600-70864200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:70863600-70864200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr11:70863600-70864200	Bivalent/Poised TSS	NHEK	skin
9	chr11:70863600-70864400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:70863600-70864400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:70863600-70864400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr11:70863600-70864600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:70863600-70864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:70863600-70864600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:70863600-70864600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:70863600-70864600	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr11:70863600-70864600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr11:70863600-70864600	Flanking Active TSS	A549	lung
19	chr11:70863600-70864600	Enhancers	HMEC	breast
20	chr11:70863600-70864800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr11:70863600-70864800	Flanking Active TSS	Hela-S3	cervix
22	chr11:70863600-70865600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:70863600-70865600	Enhancers	Placenta	Placenta
24	chr11:70863800-70864200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:70863800-70864200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:70863800-70864200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:70863800-70864200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:70863800-70864200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:70863800-70864200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:70863800-70864200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:70863800-70864400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:70863800-70864400	Active TSS	Brain Angular Gyrus	brain
33	chr11:70863800-70864400	Active TSS	Brain Anterior Caudate	brain
34	chr11:70863800-70864400	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:70863800-70864400	Active TSS	Brain Hippocampus Middle	brain
36	chr11:70863800-70864400	Active TSS	Fetal Intestine Large	intestine
37	chr11:70863800-70864400	Active TSS	Pancreas	Pancrea
38	chr11:70863800-70864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:70863800-70864600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:70863800-70864600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr11:70863800-70864600	Active TSS	Ovary	ovary
42	chr11:70863800-70865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:70864000-70864200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:70864000-70864200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:70864000-70864400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:70864000-70864400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:70864000-70864400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:70864000-70864400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:70864000-70864400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:70864000-70864400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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