Variant report

Variant	rs550092
Chromosome Location	chr1:155879030-155879031
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
2	chr1:155868953..155871356-chr1:155876102..155879060,2	MCF-7	breast:
3	chr1:155878384..155883302-chr1:155900472..155905868,7	K562	blood:
4	chr1:155877559..155880207-chr1:155906771..155908937,2	MCF-7	breast:
5	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:

Variant related genes	Relation type
ENSG00000116580	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000132718	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2152050	0.83[AFR][1000 genomes]
rs2152051	0.84[AFR][1000 genomes]
rs605472	0.84[AFR][1000 genomes]
rs6687169	0.83[AFR][1000 genomes]

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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155863400-155880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:155865200-155879200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:155865200-155879600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:155865600-155879200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:155865600-155879600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:155865800-155879200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:155865800-155879400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:155865800-155879800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:155865800-155880000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:155866000-155879200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:155866000-155879200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:155866000-155879200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:155866000-155879600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr1:155866000-155879600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr1:155866000-155879600	Strong transcription	Fetal Intestine Large	intestine
16	chr1:155866000-155879800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:155866000-155879800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:155866000-155879800	Strong transcription	Fetal Thymus	thymus
19	chr1:155866200-155879800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:155866400-155879200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:155866400-155879600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:155866400-155879800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:155867400-155879800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:155867400-155879800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:155867400-155880000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:155868400-155879400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:155868600-155879200	Strong transcription	Adipose Nuclei	Adipose
28	chr1:155868600-155879400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:155868800-155879400	Strong transcription	Left Ventricle	heart
30	chr1:155868800-155879800	Strong transcription	Thymus	Thymus
31	chr1:155868800-155880000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:155869000-155879800	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:155869000-155879800	Strong transcription	Fetal Stomach	stomach
34	chr1:155869200-155879800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:155869800-155879600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:155870200-155879200	Strong transcription	Fetal Intestine Small	intestine
37	chr1:155873000-155879200	Strong transcription	Osteobl	bone
38	chr1:155873200-155879200	Strong transcription	HUVEC	blood vessel
39	chr1:155873200-155879400	Strong transcription	NHDF-Ad	bronchial
40	chr1:155873200-155879800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:155873400-155879200	Strong transcription	NH-A	brain
42	chr1:155873400-155879400	Strong transcription	Hela-S3	cervix
43	chr1:155873400-155880200	Strong transcription	HSMM	muscle
44	chr1:155873600-155879400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:155873800-155879400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:155873800-155879800	Strong transcription	GM12878-XiMat	blood
47	chr1:155874000-155879400	Strong transcription	Placenta	Placenta
48	chr1:155874000-155880400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:155874000-155880400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:155874400-155879800	Weak transcription	Fetal Kidney	kidney

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