Variant report

Variant	rs7542141
Chromosome Location	chr1:221209088-221209089
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221207871..221209388-chr1:221212017..221214395,2	K562	blood:
2	chr1:221199957..221201906-chr1:221208542..221210480,2	K562	blood:
3	chr1:221206891..221209898-chr1:221213068..221215550,3	K562	blood:

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

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

rs_ID	r²[population]
rs12072517	1.00[AMR][1000 genomes]
rs17009368	0.84[AFR][1000 genomes]
rs17009371	0.88[AFR][1000 genomes]
rs7528553	0.92[AFR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221199800-221209200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:221204600-221210000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:221205000-221209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:221205800-221210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:221206200-221209600	Enhancers	Colon Smooth Muscle	Colon
6	chr1:221206200-221210000	Enhancers	K562	blood
7	chr1:221206600-221209600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:221207400-221212800	Weak transcription	HSMMtube	muscle
9	chr1:221207400-221213000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:221207600-221210000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:221208000-221209600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:221208400-221209200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:221208400-221209600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:221208400-221209600	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:221208400-221210000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:221208600-221209200	Enhancers	NHDF-Ad	bronchial
17	chr1:221208600-221209400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:221208600-221209600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:221208600-221209800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:221208600-221210000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:221208800-221209400	Enhancers	HSMM	muscle
22	chr1:221208800-221209600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:221208800-221209800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:221208800-221209800	Enhancers	NHLF	lung
25	chr1:221208800-221210000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:221208800-221210000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:221208800-221214400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:221209000-221209200	Flanking Active TSS	NH-A	brain
29	chr1:221209000-221209400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:221209000-221209400	Active TSS	Hela-S3	cervix
31	chr1:221209000-221209400	Flanking Active TSS	HMEC	breast
32	chr1:221209000-221209400	Flanking Active TSS	HUVEC	blood vessel
33	chr1:221209000-221209400	Flanking Active TSS	Osteobl	bone
34	chr1:221209000-221209600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:221209000-221209600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:221209000-221209800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:221209000-221209800	Enhancers	A549	lung
38	chr1:221209000-221212600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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