Variant report

Variant	rs73083631
Chromosome Location	chr1:214839868-214839869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214839860..214841922-chr1:214842947..214845039,2	K562	blood:
2	chr1:214839860..214842177-chr1:214843539..214846062,2	K562	blood:
3	chr1:214830099..214835545-chr1:214836589..214841157,5	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17800527	0.84[EUR][1000 genomes]
rs2597661	0.84[EUR][1000 genomes]
rs335560	0.84[EUR][1000 genomes]
rs60411163	0.93[AFR][1000 genomes]
rs73083623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083625	0.93[AFR][1000 genomes]
rs73083633	0.93[AFR][1000 genomes]
rs73083638	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
2	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:214801000-214843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:214801200-214846000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:214801800-214841400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:214801800-214842600	Strong transcription	A549	lung
10	chr1:214801800-214844800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:214802000-214842000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:214802400-214841600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:214805800-214845800	Strong transcription	Dnd41	blood
15	chr1:214806000-214840200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:214810400-214847400	Weak transcription	Brain Germinal Matrix	brain
17	chr1:214811200-214841600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:214811400-214841600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:214811600-214840400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr1:214812000-214840600	Strong transcription	Thymus	Thymus
21	chr1:214812800-214846000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:214813400-214840600	Strong transcription	HUVEC	blood vessel
23	chr1:214814200-214841400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:214816600-214841600	Weak transcription	Fetal Brain Female	brain
25	chr1:214819200-214843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:214820200-214841000	Strong transcription	K562	blood
27	chr1:214821200-214841400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:214822000-214841400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:214822600-214840800	Strong transcription	HepG2	liver
30	chr1:214826400-214840400	Strong transcription	GM12878-XiMat	blood
31	chr1:214826400-214840400	Strong transcription	HMEC	breast
32	chr1:214826400-214840800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr1:214826600-214841400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:214827400-214843600	Weak transcription	Ovary	ovary
35	chr1:214827400-214847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:214828000-214840200	Strong transcription	Hela-S3	cervix
37	chr1:214828200-214846000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:214830800-214841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:214831800-214841600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:214833400-214851600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:214834000-214840600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:214834000-214841400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:214835000-214844200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:214835200-214840400	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:214835200-214847400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:214835800-214841000	Strong transcription	HSMM	muscle
47	chr1:214836000-214842200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:214836000-214843000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:214836200-214841400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:214836400-214840000	Strong transcription	Primary T cells from cord blood	blood

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