Variant report

Variant	rs72748471
Chromosome Location	chr1:223291032-223291033
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	chr1:223283377..223285356-chr1:223290316..223292378,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1341985	0.86[EUR][1000 genomes]
rs1418143	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1418144	0.86[EUR][1000 genomes]
rs34088950	0.86[EUR][1000 genomes]
rs5744104	0.86[EUR][1000 genomes]
rs5744106	0.86[EUR][1000 genomes]
rs5744107	0.86[EUR][1000 genomes]
rs5744144	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744150	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744151	1.00[ASN][1000 genomes]
rs5744156	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72743840	0.86[EUR][1000 genomes]
rs72743847	0.86[EUR][1000 genomes]
rs72743860	0.86[EUR][1000 genomes]
rs72743869	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72743871	0.86[EUR][1000 genomes]
rs72743874	0.86[EUR][1000 genomes]
rs72748469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748482	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988779	0.86[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
2	chr1:223277000-223306800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223282400-223302800	Weak transcription	Thymus	Thymus
4	chr1:223283400-223302600	Weak transcription	Gastric	stomach
5	chr1:223284400-223296800	Weak transcription	Pancreas	Pancrea
6	chr1:223284600-223296800	Weak transcription	Stomach Mucosa	stomach
7	chr1:223286000-223294600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:223286400-223292800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:223286400-223293800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:223287800-223292600	Weak transcription	Right Ventricle	heart
11	chr1:223288000-223296600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:223288000-223297000	Weak transcription	Right Atrium	heart
13	chr1:223288200-223296800	Weak transcription	Adipose Nuclei	Adipose
14	chr1:223288400-223296600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:223288400-223296600	Weak transcription	Ovary	ovary
16	chr1:223288800-223295600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:223289000-223296400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:223289000-223296600	Weak transcription	Fetal Stomach	stomach
19	chr1:223289400-223302400	Weak transcription	Spleen	Spleen
20	chr1:223289600-223292600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:223290000-223296800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:223290200-223292400	Weak transcription	Placenta	Placenta
23	chr1:223290600-223293000	Enhancers	Fetal Intestine Small	intestine
24	chr1:223290800-223292000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:223290800-223302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:223291000-223292600	Enhancers	Fetal Intestine Large	intestine
27	chr1:223291000-223299200	Weak transcription	Brain Substantia Nigra	brain

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