Variant report

Variant	rs1227998
Chromosome Location	chr11:47967167-47967168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47964794..47968609-chr11:48000698..48003518,3	MCF-7	breast:
2	chr11:47882484..47885060-chr11:47964831..47967242,2	K562	blood:
3	chr11:47967015..47968589-chr11:48075080..48077424,2	MCF-7	breast:
4	chr11:47964249..47967260-chr11:47967441..47970649,3	K562	blood:
5	chr11:47964759..47967260-chr11:47968299..47969907,3	K562	blood:
6	chr11:47967043..47970395-chr11:47999984..48003579,8	MCF-7	breast:
7	chr11:47967141..47970110-chr11:47980010..47981597,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11039473	0.80[EUR][1000 genomes]
rs11039480	0.80[EUR][1000 genomes]
rs12270546	0.80[EUR][1000 genomes]
rs1227997	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1227999	0.80[EUR][1000 genomes]
rs1228000	0.80[EUR][1000 genomes]
rs1228004	0.80[EUR][1000 genomes]
rs1228008	0.84[EUR][1000 genomes]
rs12290628	0.80[EUR][1000 genomes]
rs12294218	0.80[EUR][1000 genomes]
rs1681604	0.80[EUR][1000 genomes]
rs1681631	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1681637	0.80[EUR][1000 genomes]
rs1729281	0.80[EUR][1000 genomes]
rs1729294	0.83[EUR][1000 genomes]
rs2697810	0.80[EUR][1000 genomes]
rs2930195	0.80[EUR][1000 genomes]
rs7116080	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
2	chr11:47954400-47968200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:47956800-47970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:47959800-47968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:47960000-47967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47960000-47967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:47960000-47967800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:47960000-47972400	Weak transcription	Lung	lung
9	chr11:47964000-47968400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:47964000-47968400	Weak transcription	GM12878-XiMat	blood
11	chr11:47964000-47972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:47964200-47968400	Weak transcription	Placenta	Placenta
13	chr11:47964400-47967400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:47964400-47967400	Weak transcription	Primary B cells from cord blood	blood
15	chr11:47964400-47967400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:47964400-47968800	Weak transcription	Right Atrium	heart
17	chr11:47964600-47968600	Weak transcription	Liver	Liver
18	chr11:47966000-47967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:47966000-47968200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:47966200-47967400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:47966200-47967600	Enhancers	Hela-S3	cervix
22	chr11:47966200-47968000	Weak transcription	Stomach Mucosa	stomach
23	chr11:47966200-47968600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:47966200-47968600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:47966200-47968600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:47966200-47968600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:47966200-47969800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:47966200-47972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:47966400-47967800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:47966400-47967800	Enhancers	A549	lung
31	chr11:47966400-47968200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:47966400-47968200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:47966400-47968200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:47966400-47968200	Weak transcription	NHDF-Ad	bronchial
35	chr11:47966400-47968600	Weak transcription	NHLF	lung
36	chr11:47966400-47969000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:47966400-47969200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:47966600-47967600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:47966600-47967800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47966600-47967800	Weak transcription	HMEC	breast
41	chr11:47966600-47967800	Weak transcription	NHEK	skin
42	chr11:47966600-47968000	Weak transcription	NH-A	brain
43	chr11:47966600-47968200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:47966600-47968200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:47966600-47968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:47966600-47968200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:47966600-47968200	Weak transcription	HSMM	muscle
48	chr11:47966600-47968200	Weak transcription	HUVEC	blood vessel
49	chr11:47966600-47968200	Enhancers	K562	blood
50	chr11:47966600-47968200	Weak transcription	Osteobl	bone

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