Variant report

Variant	rs1031674
Chromosome Location	chr1:221609549-221609550
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	chr1:221582501..221585038-chr1:221608026..221610833,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11118738	0.81[JPT][hapmap]
rs11118740	0.86[JPT][hapmap]
rs12029151	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12032381	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12038764	0.90[ASN][1000 genomes]
rs12039408	0.81[ASN][1000 genomes]
rs12046746	0.90[ASN][1000 genomes]
rs17010060	0.90[ASN][1000 genomes]
rs1903139	0.95[JPT][hapmap]
rs34525999	0.90[ASN][1000 genomes]
rs35826842	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59313526	0.90[ASN][1000 genomes]
rs6657854	0.90[ASN][1000 genomes]
rs6674252	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6688377	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6688476	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72629676	0.90[ASN][1000 genomes]
rs7544629	0.90[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221603800-221609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221604800-221612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:221605000-221611400	Weak transcription	A549	lung
4	chr1:221605200-221611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:221605400-221611400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:221605400-221611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:221605800-221612400	Weak transcription	Fetal Heart	heart
8	chr1:221605800-221613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:221606200-221613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:221608200-221615000	Enhancers	Hela-S3	cervix
11	chr1:221608400-221609600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:221608600-221612800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:221608600-221613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:221609000-221609600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:221609000-221610000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:221609000-221610600	Enhancers	Fetal Lung	lung
17	chr1:221609000-221612200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:221609000-221613800	Enhancers	Osteobl	bone
19	chr1:221609200-221611000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:221609200-221611400	Weak transcription	HUVEC	blood vessel
21	chr1:221609200-221611400	Weak transcription	NHDF-Ad	bronchial
22	chr1:221609200-221611400	Weak transcription	NHEK	skin
23	chr1:221609200-221612600	Weak transcription	HSMMtube	muscle
24	chr1:221609200-221612800	Weak transcription	NHLF	lung
25	chr1:221609200-221613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:221609400-221609800	Weak transcription	Right Atrium	heart
27	chr1:221609400-221611000	Weak transcription	HSMM	muscle
28	chr1:221609400-221612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:221609400-221612600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:221609400-221612800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:221609400-221613000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:221609400-221613000	Weak transcription	Colon Smooth Muscle	Colon

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