Variant report

Variant	rs4150657
Chromosome Location	chr11:18378772-18378773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18378755..18381562-chr11:18416163..18418318,3	K562	blood:
2	chr11:18343064..18345382-chr11:18377317..18379010,2	K562	blood:
3	chr11:18377382..18380490-chr11:18416157..18418987,3	K562	blood:
4	chr11:18377432..18379062-chr11:18380151..18382071,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4150547	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150557	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150574	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150578	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150601	0.96[AFR][1000 genomes]
rs4150623	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150624	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs4150648	0.96[AFR][1000 genomes]
rs4150683	1.00[AFR][1000 genomes]
rs7110937	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[YRI][hapmap]
rs7112739	1.00[AFR][1000 genomes]
rs7117069	1.00[ASW][hapmap];0.95[LWK][hapmap];0.90[YRI][hapmap]
rs7117801	1.00[AFR][1000 genomes]
rs7939858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948195	0.96[AFR][1000 genomes]
rs7949797	0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18346800-18382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:18347000-18387400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:18351200-18387000	Weak transcription	Stomach Mucosa	stomach
7	chr11:18352400-18389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:18354400-18389400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:18357000-18389200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:18357200-18379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:18360000-18382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:18363000-18390200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:18363200-18379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
16	chr11:18365800-18381400	Weak transcription	Pancreas	Pancrea
17	chr11:18366600-18381400	Weak transcription	Gastric	stomach
18	chr11:18367600-18390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:18368000-18382400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:18368200-18379400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:18368200-18379800	Weak transcription	Fetal Brain Male	brain
22	chr11:18368600-18381400	Weak transcription	Spleen	Spleen
23	chr11:18369600-18379600	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:18369600-18385800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:18369800-18379600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:18369800-18380600	Weak transcription	NHLF	lung
27	chr11:18370000-18379200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:18370000-18379200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:18370200-18379800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:18370400-18380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:18370600-18379800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:18372800-18387200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:18373200-18386000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:18373200-18388200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:18373200-18389200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:18373200-18389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:18373200-18389200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:18373200-18390600	Strong transcription	Adipose Nuclei	Adipose
39	chr11:18373400-18381800	Strong transcription	Primary B cells from cord blood	blood
40	chr11:18373400-18385600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:18373400-18388200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:18373400-18389200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr11:18373400-18390000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:18373400-18390400	Strong transcription	Dnd41	blood
45	chr11:18373600-18389200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:18373600-18389800	Strong transcription	Liver	Liver
47	chr11:18373600-18389800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:18373600-18390200	Strong transcription	Fetal Thymus	thymus
49	chr11:18373600-18390400	Strong transcription	Placenta	Placenta
50	chr11:18373600-18391200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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