Variant report

Variant	rs547560812
Chromosome Location	chr1:45975942-45975943
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
2	chr1:45974939..45977846-chr1:46015282..46017928,2	MCF-7	breast:
3	chr1:45975860..45980379-chr1:46034172..46039771,7	K562	blood:
4	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
5	chr1:45974971..45980027-chr1:46048272..46053531,9	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1A1-3	chr1:45975647-45976177	NONHSAT002944

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000117448	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
5	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
7	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
8	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
9	nsv932954	chr1:45975022-45976755	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:45966800-45976000	Weak transcription	Fetal Brain Male	brain
3	chr1:45966800-45976000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:45966800-45980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:45967000-45977200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:45967200-45976200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:45967200-45976200	Weak transcription	Fetal Lung	lung
9	chr1:45971600-45985000	Strong transcription	Fetal Stomach	stomach
10	chr1:45971800-45980400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:45971800-45982000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:45972800-45978200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:45972800-45978400	Strong transcription	Fetal Intestine Small	intestine
14	chr1:45972800-45980400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:45972800-45982200	Strong transcription	K562	blood
16	chr1:45972800-45982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:45972800-45984400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:45972800-45984400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:45972800-45984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:45972800-45984600	Strong transcription	Fetal Thymus	thymus
21	chr1:45973000-45976800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:45973000-45981800	Strong transcription	Dnd41	blood
23	chr1:45973000-45983000	Strong transcription	Fetal Brain Female	brain
24	chr1:45973000-45983200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr1:45973000-45983200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:45973000-45983400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:45973000-45983800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:45973000-45983800	Strong transcription	Spleen	Spleen
29	chr1:45973000-45984000	Strong transcription	Primary T cells from cord blood	blood
30	chr1:45973000-45984000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:45973000-45984000	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:45973000-45984400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:45973000-45984400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:45973000-45984600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:45973200-45976400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:45973200-45978200	Strong transcription	Thymus	Thymus
37	chr1:45973200-45978600	Strong transcription	Fetal Intestine Large	intestine
38	chr1:45973200-45978800	Genic enhancers	Brain Substantia Nigra	brain
39	chr1:45973200-45982000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:45973200-45982200	Strong transcription	NHEK	skin
41	chr1:45973200-45982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:45973200-45983200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:45973200-45983600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:45973200-45983800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:45973200-45984200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:45973200-45984600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:45973200-45984600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:45973200-45984600	Strong transcription	Adipose Nuclei	Adipose
49	chr1:45973400-45978800	Strong transcription	Hela-S3	cervix
50	chr1:45973400-45979800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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