Variant report

Variant	rs72646715
Chromosome Location	chr1:9600368-9600369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9597781..9602686-chr1:9646599..9652829,9	K562	blood:
2	chr1:9600243..9601816-chr1:9629170..9632084,2	K562	blood:
3	chr1:9599545..9601173-chr1:9607657..9610579,2	MCF-7	breast:
4	chr1:9600120..9603287-chr1:9652178..9655376,3	K562	blood:
5	chr1:9599460..9600393-chr11:92930413..92931236,2	NB4	blood:
6	chr1:9599563..9600515-chr15:65588090..65588719,2	Hela-S3	cervix:
7	chr1:9350586..9353918-chr1:9597167..9600975,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180773	Chromatin interaction
ENSG00000188807	Chromatin interaction
ENSG00000171621	Chromatin interaction
ENSG00000199568	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10864429	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12022881	0.92[ASN][1000 genomes]
rs12023288	0.96[EUR][1000 genomes]
rs12037667	0.92[ASN][1000 genomes]
rs12040542	0.92[ASN][1000 genomes]
rs12045459	0.95[EUR][1000 genomes]
rs12045493	0.96[EUR][1000 genomes]
rs12070568	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12084279	0.91[ASN][1000 genomes]
rs28719694	0.90[EUR][1000 genomes]
rs3923984	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4423053	0.92[EUR][1000 genomes]
rs4926482	0.87[EUR][1000 genomes]
rs55655211	0.92[ASN][1000 genomes]
rs55687246	0.89[ASN][1000 genomes]
rs55780537	0.92[ASN][1000 genomes]
rs55986711	0.92[ASN][1000 genomes]
rs56026893	0.90[EUR][1000 genomes]
rs56053581	0.92[EUR][1000 genomes]
rs57272167	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58478478	0.91[ASN][1000 genomes]
rs60744607	0.91[ASN][1000 genomes]
rs6540961	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6540962	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675436	0.87[EUR][1000 genomes]
rs6698575	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72646709	0.92[ASN][1000 genomes]
rs72646712	0.92[ASN][1000 genomes]
rs72646713	0.92[ASN][1000 genomes]
rs72646718	0.92[EUR][1000 genomes]
rs7411273	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7525099	0.91[ASN][1000 genomes]
rs7544083	0.81[EUR][1000 genomes]
rs9430152	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9430153	0.90[EUR][1000 genomes]
rs9430174	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9430273	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9430274	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv545377	chr1:9597237-9602962	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv3343289	chr1:9598765-9601013	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9598800-9600400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:9599000-9600400	Active TSS	Osteobl	bone
3	chr1:9599000-9600600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:9599000-9600600	Active TSS	A549	lung
5	chr1:9599000-9600600	Active TSS	HSMM	muscle
6	chr1:9599000-9600800	Active TSS	Ovary	ovary
7	chr1:9599000-9601000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:9599200-9600400	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr1:9599200-9600400	Active TSS	Brain Anterior Caudate	brain
10	chr1:9599200-9600400	Active TSS	Brain Hippocampus Middle	brain
11	chr1:9599200-9600400	Active TSS	Fetal Intestine Large	intestine
12	chr1:9599200-9600400	Active TSS	Fetal Lung	lung
13	chr1:9599200-9600400	Active TSS	Hela-S3	cervix
14	chr1:9599200-9600800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:9599200-9601200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:9599200-9601200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:9599400-9600400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:9599400-9600400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:9599400-9600400	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:9599400-9600400	Active TSS	Small Intestine	intestine
21	chr1:9599400-9600600	Active TSS	Fetal Kidney	kidney
22	chr1:9599400-9600800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:9599400-9600800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:9599400-9600800	Active TSS	Right Ventricle	heart
25	chr1:9599400-9600800	Active TSS	NHLF	lung
26	chr1:9599400-9601000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr1:9599400-9601200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:9599600-9600400	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:9599600-9600400	Active TSS	Colon Smooth Muscle	Colon
30	chr1:9599600-9600400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr1:9599600-9600400	Active TSS	Gastric	stomach
32	chr1:9599600-9600400	Active TSS	HUVEC	blood vessel
33	chr1:9599600-9600600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:9599600-9600600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:9599600-9600600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:9599600-9600600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:9599600-9600600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:9599600-9600600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:9599600-9600600	Active TSS	Aorta	Aorta
40	chr1:9599600-9600600	Active TSS	HSMMtube	muscle
41	chr1:9599600-9600800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:9599600-9600800	Active TSS	Brain Angular Gyrus	brain
43	chr1:9599600-9601000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:9599600-9601000	Active TSS	Brain Substantia Nigra	brain
45	chr1:9599600-9601000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:9599600-9601200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:9599600-9601200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:9599600-9601200	Active TSS	GM12878-XiMat	blood
49	chr1:9599800-9600600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr1:9599800-9600800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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