Variant report

Variant	rs211125
Chromosome Location	chr11:18010137-18010138
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	chr11:18007709..18010705-chr11:18020081..18022716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129158	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10766445	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12226008	0.86[ASN][1000 genomes]
rs169807	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs211099	0.95[ASN][1000 genomes]
rs211129	0.95[ASN][1000 genomes]
rs211133	0.88[ASN][1000 genomes]
rs211142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs211143	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.98[ASN][1000 genomes]
rs211147	0.88[ASN][1000 genomes]
rs2237922	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs412261	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs444698	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs7394431	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
2	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:17961000-18016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:17966400-18014400	Weak transcription	Fetal Thymus	thymus
6	chr11:17971200-18026000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:17975000-18020200	Weak transcription	A549	lung
8	chr11:17978200-18016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:17979800-18016400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:17980400-18033600	Weak transcription	Colonic Mucosa	Colon
11	chr11:17981200-18033200	Weak transcription	Esophagus	oesophagus
12	chr11:17989400-18023400	Weak transcription	Gastric	stomach
13	chr11:17989400-18033400	Weak transcription	Pancreas	Pancrea
14	chr11:17991000-18027000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:17994000-18033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:17994600-18012200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:17996600-18032400	Weak transcription	Fetal Brain Male	brain
18	chr11:17998200-18012200	Strong transcription	Primary T cells from cord blood	blood
19	chr11:17998400-18033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:18000800-18014600	Weak transcription	Spleen	Spleen
21	chr11:18002400-18033800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:18002600-18010600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:18002600-18012200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:18002800-18012200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr11:18003600-18012400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:18003800-18011400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:18004000-18011000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:18005000-18010400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:18005200-18010200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:18005200-18010200	Strong transcription	Brain Anterior Caudate	brain
31	chr11:18005200-18010400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:18005400-18010400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:18005400-18011000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:18005600-18010200	Strong transcription	Adipose Nuclei	Adipose
35	chr11:18005600-18011400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:18005600-18012000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:18005800-18010200	Strong transcription	Brain Germinal Matrix	brain
38	chr11:18005800-18010400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:18005800-18011200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:18006200-18010400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:18006400-18010400	Strong transcription	GM12878-XiMat	blood
42	chr11:18006800-18010200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:18006800-18010400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:18006800-18010400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:18006800-18021000	Weak transcription	Placenta	Placenta
46	chr11:18007000-18012200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr11:18007000-18012600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:18007000-18017800	Strong transcription	Dnd41	blood
49	chr11:18007000-18029200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:18007400-18010400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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