Variant report

Variant	rs73091246
Chromosome Location	chr1:212303774-212303775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212293730..212295695-chr1:212302936..212305047,2	K562	blood:
2	chr1:212299758..212302513-chr1:212303234..212305200,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11809441	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56810476	1.00[EUR][1000 genomes]
rs57157835	0.83[AMR][1000 genomes]
rs57901353	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73091223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091249	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091261	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
4	chr1:212287400-212320600	Weak transcription	A549	lung
5	chr1:212292600-212314600	Weak transcription	Thymus	Thymus
6	chr1:212293200-212313200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:212295400-212303800	Weak transcription	K562	blood
8	chr1:212298200-212307200	Strong transcription	Dnd41	blood
9	chr1:212298600-212305600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:212298600-212306200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:212298600-212312200	Weak transcription	Gastric	stomach
12	chr1:212298800-212308200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:212299000-212305200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:212299000-212308000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:212299000-212313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:212299200-212305000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:212299200-212305000	Weak transcription	Fetal Thymus	thymus
18	chr1:212299200-212307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:212299200-212314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:212299800-212308600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:212300000-212308400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:212300000-212320800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:212300800-212304000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:212300800-212306200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:212300800-212314800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:212301000-212305600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:212301000-212308000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:212301000-212321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:212302800-212307400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:212303200-212304000	Strong transcription	Fetal Stomach	stomach
31	chr1:212303400-212303800	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr1:212303600-212306600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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