Variant report

Variant	rs4150547
Chromosome Location	chr11:18347273-18347274
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18342879..18346241-chr11:18346771..18352447,12	MCF-7	breast:
2	chr11:18343253..18347316-chr11:18546908..18550670,5	K562	blood:
3	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:

Variant related genes	Relation type
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000074319	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4150557	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150574	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150578	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150601	0.92[AFR][1000 genomes]
rs4150623	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150624	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4150648	0.92[AFR][1000 genomes]
rs4150657	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150683	0.88[AFR][1000 genomes]
rs7110937	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs7112739	0.88[AFR][1000 genomes]
rs7117069	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs7117801	0.88[AFR][1000 genomes]
rs7939858	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948195	0.92[AFR][1000 genomes]
rs7949797	1.00[AMR][1000 genomes]

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	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	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18344800-18349000	Weak transcription	Lung	lung
2	chr11:18344800-18353400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:18345000-18347600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:18345000-18353400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:18345000-18383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:18345200-18347800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:18345200-18350800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:18345600-18350800	Weak transcription	Aorta	Aorta
10	chr11:18345800-18349400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:18346000-18347400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:18346000-18349600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:18346200-18347400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:18346200-18347600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:18346200-18347600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
16	chr11:18346200-18347800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:18346200-18347800	Weak transcription	Fetal Intestine Small	intestine
18	chr11:18346200-18347800	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:18346200-18347800	Weak transcription	Left Ventricle	heart
20	chr11:18346200-18348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:18346200-18348600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:18346200-18349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:18346200-18349400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:18346200-18351400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:18346200-18351400	Weak transcription	Right Atrium	heart
26	chr11:18346200-18352000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:18346200-18352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:18346200-18355200	Weak transcription	Colonic Mucosa	Colon
29	chr11:18346400-18347400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:18346400-18347400	Enhancers	HUVEC	blood vessel
31	chr11:18346400-18347800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:18346400-18347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:18346400-18347800	Weak transcription	Fetal Stomach	stomach
34	chr11:18346400-18349000	Weak transcription	Thymus	Thymus
35	chr11:18346400-18349000	Weak transcription	Spleen	Spleen
36	chr11:18346400-18349400	Strong transcription	Psoas Muscle	Psoas
37	chr11:18346400-18350000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:18346400-18353000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:18346400-18353400	Weak transcription	Pancreas	Pancrea
40	chr11:18346400-18354600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:18346400-18355200	Weak transcription	Gastric	stomach
42	chr11:18346400-18355200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:18346400-18357000	Weak transcription	Esophagus	oesophagus
44	chr11:18346400-18358400	Weak transcription	Right Ventricle	heart
45	chr11:18346400-18358600	Weak transcription	Fetal Brain Male	brain
46	chr11:18346600-18347400	Genic enhancers	Primary T cells from cord blood	blood
47	chr11:18346600-18347400	Genic enhancers	Duodenum Mucosa	Duodenum
48	chr11:18346600-18347600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr11:18346600-18348000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:18346600-18348000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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