Variant report

Variant	rs73048326
Chromosome Location	chr1:180324311-180324312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10798773	1.00[EUR][1000 genomes]
rs16855995	0.95[AMR][1000 genomes]
rs16856047	0.95[AMR][1000 genomes]
rs16856096	1.00[EUR][1000 genomes]
rs16856099	1.00[EUR][1000 genomes]
rs16856101	1.00[EUR][1000 genomes]
rs16856123	1.00[EUR][1000 genomes]
rs4291460	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4593779	0.95[AMR][1000 genomes]
rs56020568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56727952	0.95[AMR][1000 genomes]
rs58448569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59566396	0.80[AMR][1000 genomes]
rs61122637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61130309	1.00[EUR][1000 genomes]
rs6665811	1.00[EUR][1000 genomes]
rs6677338	1.00[EUR][1000 genomes]
rs6685482	1.00[EUR][1000 genomes]
rs73035577	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73035587	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73035594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73037405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73037424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046418	0.85[AMR][1000 genomes]
rs73046442	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73048241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73048301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73048331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048343	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73050233	1.00[EUR][1000 genomes]
rs73050297	1.00[EUR][1000 genomes]
rs73052305	1.00[EUR][1000 genomes]
rs73052322	1.00[EUR][1000 genomes]
rs7533246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv832004	chr1:180128502-180335540	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
7	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180281000-180329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:180309600-180345400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:180310000-180348200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:180313400-180329400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:180313400-180335200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:180313800-180328000	Weak transcription	Fetal Lung	lung
7	chr1:180314000-180345800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:180317800-180329400	Weak transcription	HMEC	breast
9	chr1:180318000-180329400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:180322200-180328200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:180323200-180327800	Weak transcription	HSMMtube	muscle
12	chr1:180323400-180329400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:180323600-180327800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:180323600-180327800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180323600-180332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:180323800-180324800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:180323800-180325400	Weak transcription	Fetal Stomach	stomach
18	chr1:180323800-180327800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:180323800-180329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:180324000-180325000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:180324000-180331800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:180324000-180341600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:180324200-180324400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:180324200-180324600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:180324200-180325000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:180324200-180325000	Enhancers	Fetal Heart	heart
27	chr1:180324200-180331200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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