Variant report

Variant	rs4949625
Chromosome Location	chr1:76735720-76735721
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11162105	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12069137	0.93[ASN][1000 genomes]
rs4949624	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945364	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76726400-76740000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:76727400-76744800	Weak transcription	Aorta	Aorta
3	chr1:76731800-76736200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:76731800-76736600	Enhancers	Fetal Thymus	thymus
5	chr1:76732000-76737000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:76732000-76737600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:76732200-76736400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:76732200-76736400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:76732200-76737000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:76732800-76735800	Enhancers	Fetal Lung	lung
11	chr1:76732800-76736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:76733000-76735800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:76733000-76735800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:76733000-76737000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:76733200-76735800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:76733800-76735800	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:76733800-76735800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:76733800-76736600	Enhancers	Fetal Muscle Leg	muscle
19	chr1:76733800-76736800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:76734000-76735800	Enhancers	HSMM	muscle
21	chr1:76734000-76736200	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:76734000-76736400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:76734000-76736600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:76734000-76736600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:76734000-76737000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:76734000-76737400	Weak transcription	Primary B cells from cord blood	blood
27	chr1:76734200-76735800	Enhancers	Small Intestine	intestine
28	chr1:76734200-76736200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:76734400-76735800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:76734400-76735800	Enhancers	Psoas Muscle	Psoas
31	chr1:76734400-76735800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:76734400-76735800	Enhancers	NHDF-Ad	bronchial
33	chr1:76734400-76737000	Enhancers	Adipose Nuclei	Adipose
34	chr1:76734600-76735800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:76734600-76737600	Enhancers	Primary T cells from cord blood	blood
36	chr1:76734800-76735800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:76734800-76736200	Weak transcription	Right Atrium	heart
38	chr1:76735000-76735800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:76735000-76737000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:76735000-76737200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:76735000-76740200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:76735000-76743400	Weak transcription	Fetal Kidney	kidney
43	chr1:76735200-76744600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:76735200-76745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:76735400-76735800	Enhancers	Spleen	Spleen
46	chr1:76735400-76736400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:76735400-76736600	Enhancers	GM12878-XiMat	blood
48	chr1:76735400-76744200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:76735600-76735800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:76735600-76735800	Enhancers	Primary B cells from peripheral blood	blood

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