Variant report

Variant	rs73083638
Chromosome Location	chr1:214843149-214843150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214839860..214841922-chr1:214842947..214845039,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17800527	0.84[EUR][1000 genomes]
rs2597661	0.84[EUR][1000 genomes]
rs335560	0.84[EUR][1000 genomes]
rs73083623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873165	chr1:214802299-214889859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
2	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr1:214801200-214846000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:214801800-214844800	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:214805800-214845800	Strong transcription	Dnd41	blood
8	chr1:214810400-214847400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:214812800-214846000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:214827400-214843600	Weak transcription	Ovary	ovary
11	chr1:214827400-214847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:214828200-214846000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:214833400-214851600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:214835000-214844200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:214835200-214847400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:214836800-214843600	Weak transcription	Right Ventricle	heart
17	chr1:214838600-214846800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:214838800-214846800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:214840200-214843800	Weak transcription	NHLF	lung
20	chr1:214840200-214844200	Weak transcription	Hela-S3	cervix
21	chr1:214840200-214845800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:214840400-214843600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:214840400-214848600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:214840400-214850200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:214840400-214851600	Weak transcription	NH-A	brain
26	chr1:214840400-214851800	Weak transcription	NHDF-Ad	bronchial
27	chr1:214840600-214845400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:214840600-214845800	Weak transcription	Thymus	Thymus
29	chr1:214840600-214848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:214840600-214851600	Weak transcription	HUVEC	blood vessel
31	chr1:214840600-214851800	Weak transcription	Osteobl	bone
32	chr1:214840800-214845000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:214841000-214851200	Weak transcription	HSMM	muscle
34	chr1:214841200-214845200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:214841400-214844200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:214841400-214846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:214841400-214847000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:214841400-214847400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:214841400-214850200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:214841400-214857000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:214841600-214845800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:214841600-214846000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:214842000-214845200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:214842200-214843400	Strong transcription	GM12878-XiMat	blood
45	chr1:214842200-214844600	Strong transcription	K562	blood
46	chr1:214842200-214845400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:214842200-214856800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:214842400-214844000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:214842400-214844400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:214842600-214844000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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