Variant report

Variant	rs4150683
Chromosome Location	chr11:18387665-18387666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18386073..18387800-chr11:18389640..18392386,2	K562	blood:
2	chr11:18385990..18389914-chr11:18403284..18406325,4	K562	blood:
3	chr11:18386676..18389671-chr11:18414694..18418996,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4150547	0.88[AFR][1000 genomes]
rs4150557	0.92[AFR][1000 genomes]
rs4150574	0.92[AFR][1000 genomes]
rs4150578	0.92[AFR][1000 genomes]
rs4150601	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150623	0.96[AFR][1000 genomes]
rs4150624	0.96[AFR][1000 genomes]
rs4150648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150657	1.00[AFR][1000 genomes]
rs4150676	1.00[AMR][1000 genomes]
rs7110937	1.00[AMR][1000 genomes]
rs7112739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117069	1.00[AMR][1000 genomes]
rs7117801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939858	0.96[AFR][1000 genomes]
rs7948195	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv523373	chr11:18382911-18401531	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 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	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:18352400-18389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:18354400-18389400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:18357000-18389200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:18363000-18390200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
9	chr11:18367600-18390000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:18373200-18388200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:18373200-18389200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:18373200-18389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:18373200-18389200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:18373200-18390600	Strong transcription	Adipose Nuclei	Adipose
15	chr11:18373400-18388200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:18373400-18389200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:18373400-18390000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:18373400-18390400	Strong transcription	Dnd41	blood
19	chr11:18373600-18389200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:18373600-18389800	Strong transcription	Liver	Liver
21	chr11:18373600-18389800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:18373600-18390200	Strong transcription	Fetal Thymus	thymus
23	chr11:18373600-18390400	Strong transcription	Placenta	Placenta
24	chr11:18373600-18391200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:18373800-18388000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:18373800-18389200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:18373800-18389200	Strong transcription	Fetal Intestine Large	intestine
28	chr11:18373800-18389200	Strong transcription	Thymus	Thymus
29	chr11:18373800-18389400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:18373800-18389400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:18373800-18390400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:18374400-18388800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:18374400-18388800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:18374400-18389000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:18374400-18389200	Strong transcription	Left Ventricle	heart
36	chr11:18374400-18389400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:18374400-18389400	Strong transcription	Fetal Intestine Small	intestine
38	chr11:18374600-18388800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:18374800-18389800	Strong transcription	Fetal Muscle Leg	muscle
40	chr11:18374800-18390200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:18375200-18388200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:18375800-18388600	Strong transcription	Osteobl	bone
43	chr11:18376000-18389400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:18377000-18389200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:18377000-18389200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:18377200-18389000	Strong transcription	HSMMtube	muscle
47	chr11:18377200-18389200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:18377200-18389400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:18377200-18390000	Strong transcription	Fetal Brain Female	brain
50	chr11:18377400-18387800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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