Variant report

Variant	rs949140
Chromosome Location	chr11:72953343-72953344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72952515..72955647-chr11:72999946..73001920,3	MCF-7	breast:
2	chr11:72935934..72938365-chr11:72952035..72953904,2	K562	blood:
3	chr11:72944490..72946453-chr11:72952891..72955306,2	MCF-7	breast:
4	chr11:72951072..72954969-chr11:72955033..72959684,5	MCF-7	breast:
5	chr11:72926533..72928562-chr11:72951234..72953963,2	MCF-7	breast:
6	chr11:72536642..72539499-chr11:72952238..72954950,2	K562	blood:
7	chr11:72953288..72954223-chr11:73000275..73001171,6	MCF-7	breast:
8	chr11:72895927..72897022-chr11:72953325..72954606,11	MCF-7	breast:
9	chr11:72853771..72855809-chr11:72951998..72953801,2	K562	blood:
10	chr11:72947595..72949559-chr11:72951904..72954092,3	MCF-7	breast:
11	chr11:72952611..72954570-chr11:72995302..72997462,2	MCF-7	breast:
12	chr11:72542052..72543182-chr11:72952910..72954295,8	K562	blood:
13	chr11:72943180..72944892-chr11:72951598..72954377,2	K562	blood:
14	chr11:72948068..72951441-chr11:72952296..72954651,3	K562	blood:
15	chr11:72948658..72950846-chr11:72951631..72953864,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-P2RY2-1	chr11:72950020-72953380	ENSG00000260401.1
2	lnc-P2RY2-1	chr11:72951137-72953380	NONHSAT022817

No data

Variant related genes	Relation type
ENSG00000215841	Chromatin interaction
ENSG00000260401	Chromatin interaction
ENSG00000171631	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1626154	0.81[GIH][hapmap]
rs1791923	0.93[ASN][1000 genomes]
rs3814728	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949141	0.80[CEU][hapmap]

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	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72936400-72953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:72940600-72953400	Weak transcription	Fetal Intestine Large	intestine
3	chr11:72945200-72953400	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:72946200-72954200	Enhancers	Left Ventricle	heart
5	chr11:72946400-72953400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:72946600-72953400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:72946600-72953400	Weak transcription	Colonic Mucosa	Colon
8	chr11:72946600-72954400	Enhancers	Right Ventricle	heart
9	chr11:72947200-72953400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:72947800-72953400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:72947800-72953400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:72948400-72953400	Weak transcription	Liver	Liver
13	chr11:72949600-72953600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:72949600-72954400	Enhancers	HMEC	breast
15	chr11:72949800-72953400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:72950400-72953400	Weak transcription	HepG2	liver
17	chr11:72951000-72954000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:72951000-72954200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:72951200-72953400	Weak transcription	Pancreas	Pancrea
20	chr11:72951400-72953600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:72951600-72953400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:72951600-72953400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:72951600-72953600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:72951600-72954400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr11:72951800-72953400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:72951800-72953400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:72951800-72953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:72951800-72953400	Weak transcription	Placenta	Placenta
29	chr11:72951800-72953400	Weak transcription	Ovary	ovary
30	chr11:72951800-72953400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:72951800-72953400	Weak transcription	HSMM	muscle
32	chr11:72951800-72953400	Weak transcription	NHDF-Ad	bronchial
33	chr11:72951800-72954000	Weak transcription	Esophagus	oesophagus
34	chr11:72951800-72956200	Weak transcription	Lung	lung
35	chr11:72952000-72953400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:72952000-72953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:72952000-72953400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:72952000-72953400	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:72952000-72953400	Weak transcription	Right Atrium	heart
40	chr11:72952000-72953400	Weak transcription	Stomach Mucosa	stomach
41	chr11:72952000-72953400	Weak transcription	Hela-S3	cervix
42	chr11:72952000-72956800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:72952200-72953400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:72952600-72954200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:72952600-72954400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:72952800-72953400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:72952800-72953400	Weak transcription	Psoas Muscle	Psoas
48	chr11:72953000-72953400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:72953000-72954200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:72953000-72962000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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