Variant report

Variant	rs2357991
Chromosome Location	chr2:11270882-11270883
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11213310..11214023-chr2:11269749..11271029,3	MCF-7	breast:
2	chr2:11268656..11272146-chr2:11621524..11625212,4	MCF-7	breast:
3	chr2:11269743..11271630-chr2:11718749..11720489,2	K562	blood:
4	chr2:11256745..11259166-chr2:11268609..11271261,2	MCF-7	breast:
5	chr2:10973920..10977755-chr2:11268417..11271773,4	K562	blood:
6	chr2:11268985..11271402-chr2:11299866..11302582,2	MCF-7	breast:
7	chr2:11259687..11261263-chr2:11269036..11270922,2	MCF-7	breast:
8	chr2:10828291..10832221-chr2:11269738..11273006,3	MCF-7	breast:
9	chr2:10947754..10949615-chr2:11268944..11271404,2	MCF-7	breast:
10	chr2:11256796..11258372-chr2:11268716..11271712,2	MCF-7	breast:
11	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:
12	chr2:11268781..11271760-chr2:11481751..11485237,3	MCF-7	breast:
13	chr2:10971180..10977465-chr2:11267266..11272931,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115761	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000143870	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10166950	0.95[EUR][1000 genomes]
rs10166997	0.98[EUR][1000 genomes]
rs10191933	0.93[EUR][1000 genomes]
rs10495579	0.98[EUR][1000 genomes]
rs11676318	0.89[EUR][1000 genomes]
rs11681385	0.89[EUR][1000 genomes]
rs13392854	0.90[EUR][1000 genomes]
rs2037105	0.83[AFR][1000 genomes]
rs28433865	0.90[EUR][1000 genomes]
rs55935965	0.90[EUR][1000 genomes]
rs72785428	0.94[EUR][1000 genomes]
rs72785429	0.94[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	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11269600-11271000	Flanking Active TSS	Dnd41	blood
2	chr2:11269800-11274000	Enhancers	Fetal Brain Male	brain
3	chr2:11270000-11272400	Active TSS	Brain Angular Gyrus	brain
4	chr2:11270200-11271200	Enhancers	Fetal Thymus	thymus
5	chr2:11270400-11271000	Enhancers	Stomach Mucosa	stomach
6	chr2:11270400-11271200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:11270400-11271400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:11270400-11271400	Enhancers	Placenta	Placenta
9	chr2:11270400-11271400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:11270400-11272400	Weak transcription	NHLF	lung
11	chr2:11270400-11272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:11270400-11272600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:11270400-11272600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:11270400-11272600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:11270400-11272600	Weak transcription	Osteobl	bone
16	chr2:11270400-11272800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:11270400-11272800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:11270400-11273000	Weak transcription	Aorta	Aorta
19	chr2:11270400-11273000	Weak transcription	Esophagus	oesophagus
20	chr2:11270600-11271000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr2:11270600-11271000	Enhancers	Small Intestine	intestine
22	chr2:11270600-11271000	Enhancers	Thymus	Thymus
23	chr2:11270600-11271000	Enhancers	NHEK	skin
24	chr2:11270600-11271200	Enhancers	Fetal Intestine Small	intestine
25	chr2:11270600-11271400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:11270600-11271400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:11270600-11271400	Enhancers	Brain Anterior Caudate	brain
28	chr2:11270600-11271400	Enhancers	GM12878-XiMat	blood
29	chr2:11270600-11271600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:11270600-11271600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:11270600-11271600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:11270600-11271600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:11270600-11271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:11270600-11271600	Weak transcription	Fetal Brain Female	brain
35	chr2:11270600-11271600	Enhancers	Fetal Intestine Large	intestine
36	chr2:11270600-11271800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:11270600-11271800	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:11270600-11271800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:11270600-11271800	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:11270600-11272000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:11270600-11272400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:11270600-11272400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:11270600-11272400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:11270600-11272400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:11270600-11272400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:11270600-11272600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:11270600-11272600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:11270600-11272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:11270600-11272600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:11270600-11272600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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