Variant report

Variant	rs658729
Chromosome Location	chr1:241775724-241775725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:241694714..241696858-chr1:241773664..241776631,2	MCF-7	breast:
2	chr1:241772283..241778224-chr1:242009807..242013534,8	K562	blood:
3	chr1:241773131..241776077-chr1:241996871..241998567,3	K562	blood:
4	chr1:241771385..241778307-chr1:242009711..242015472,10	K562	blood:
5	chr1:241773331..241776575-chr1:241781008..241783225,3	K562	blood:

Variant related genes	Relation type
ENSG00000117009	Chromatin interaction
ENSG00000174371	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs652571	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs684338	0.81[AMR][1000 genomes];0.82[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	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv427963	chr1:241718799-241832833	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241746600-241779200	Weak transcription	Lung	lung
2	chr1:241746800-241779600	Weak transcription	Aorta	Aorta
3	chr1:241750600-241786000	Weak transcription	Fetal Brain Female	brain
4	chr1:241750800-241786200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:241753400-241791200	Weak transcription	Thymus	Thymus
6	chr1:241754400-241782600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:241755000-241777600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:241755800-241775800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:241756000-241791000	Weak transcription	Fetal Thymus	thymus
10	chr1:241756400-241779000	Weak transcription	Colonic Mucosa	Colon
11	chr1:241758000-241777800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:241758000-241790800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:241758000-241797200	Weak transcription	Left Ventricle	heart
14	chr1:241758000-241800200	Weak transcription	Ovary	ovary
15	chr1:241758800-241778000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:241758800-241802400	Weak transcription	Right Ventricle	heart
17	chr1:241759000-241790600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:241764600-241781400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:241766200-241798600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:241766400-241776800	Enhancers	HMEC	breast
21	chr1:241766600-241776400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:241767800-241788600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:241767800-241790600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:241768000-241787600	Weak transcription	Primary T cells from cord blood	blood
25	chr1:241768000-241791000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:241768200-241778000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:241768600-241776400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:241768600-241776400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:241769000-241779800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:241770200-241775800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:241771600-241776400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:241771600-241776400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:241771600-241776400	Enhancers	NHLF	lung
34	chr1:241771600-241776800	Enhancers	HUVEC	blood vessel
35	chr1:241772000-241776800	Enhancers	NHEK	skin
36	chr1:241772400-241776400	Enhancers	Hela-S3	cervix
37	chr1:241773600-241775800	Weak transcription	HSMMtube	muscle
38	chr1:241773600-241779000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:241773600-241779000	Weak transcription	Pancreas	Pancrea
40	chr1:241773800-241775800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:241773800-241775800	Weak transcription	HSMM	muscle
42	chr1:241773800-241779000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:241773800-241779000	Weak transcription	Gastric	stomach
44	chr1:241774000-241778200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:241774200-241776400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:241774400-241775800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:241774600-241775800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:241774600-241775800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:241774600-241775800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:241774600-241775800	Enhancers	NH-A	brain

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