Variant report

Variant	rs7551741
Chromosome Location	chr1:149918132-149918133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149916193..149918470-chr1:149919311..149921595,2	MCF-7	breast:
2	chr1:149916780..149919549-chr1:149921905..149924910,3	MCF-7	breast:
3	chr1:149915088..149918553-chr1:149919543..149922187,5	K562	blood:
4	chr1:149916925..149918503-chr1:150038601..150041339,2	MCF-7	breast:
5	chr1:149917288..149919017-chr1:149922295..149924895,2	K562	blood:

Variant related genes	Relation type
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494260	0.94[ASN][1000 genomes]
rs11205309	0.87[ASN][1000 genomes]
rs11205310	0.87[ASN][1000 genomes]
rs12023748	0.93[ASN][1000 genomes]
rs12026500	0.94[ASN][1000 genomes]
rs12082689	0.86[ASN][1000 genomes]
rs17581597	0.80[AMR][1000 genomes]
rs3738320	0.86[ASN][1000 genomes]
rs3767627	0.93[ASN][1000 genomes]
rs3767628	0.92[ASN][1000 genomes]
rs3936952	0.86[ASN][1000 genomes]
rs4926386	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4926400	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6660842	0.98[ASN][1000 genomes]
rs72692821	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72692823	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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 target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
2	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:149910200-149929800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:149911400-149933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:149912200-149920400	Weak transcription	NHDF-Ad	bronchial
6	chr1:149912200-149920600	Weak transcription	Small Intestine	intestine
7	chr1:149912600-149941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:149912800-149920600	Weak transcription	K562	blood
9	chr1:149912800-149933800	Weak transcription	Stomach Mucosa	stomach
10	chr1:149914200-149919000	Weak transcription	A549	lung
11	chr1:149914200-149919200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:149914400-149937400	Weak transcription	Fetal Heart	heart
13	chr1:149914800-149919400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:149914800-149922200	Strong transcription	Fetal Stomach	stomach
15	chr1:149914800-149922400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:149914800-149922400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:149914800-149922400	Strong transcription	HSMMtube	muscle
18	chr1:149914800-149922600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:149914800-149924600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:149915000-149922600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:149915000-149922600	Strong transcription	Placenta	Placenta
22	chr1:149915000-149922800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:149915000-149923600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:149915000-149937600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:149915200-149922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:149915200-149922600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:149915200-149923600	Strong transcription	Liver	Liver
28	chr1:149915400-149921800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:149915400-149922200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:149915400-149922400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:149915400-149922400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:149915400-149922600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:149915400-149922600	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:149915400-149922600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:149915400-149923400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:149915400-149923400	Strong transcription	Fetal Intestine Small	intestine
37	chr1:149915600-149918400	Strong transcription	Ovary	ovary
38	chr1:149915600-149919600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:149915600-149922200	Strong transcription	Gastric	stomach
40	chr1:149915600-149922400	Strong transcription	Fetal Intestine Large	intestine
41	chr1:149915600-149922400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr1:149915600-149922600	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:149915600-149922600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:149915600-149922600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:149915600-149922600	Strong transcription	Adipose Nuclei	Adipose
46	chr1:149915600-149923600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:149915600-149923600	Strong transcription	Left Ventricle	heart
48	chr1:149915600-149923800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:149915600-149924000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:149915800-149922000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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