Variant report

Variant	rs7533306
Chromosome Location	chr1:212797890-212797891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212639889..212643172-chr1:212795709..212798826,3	K562	blood:
2	chr1:212780213..212784804-chr1:212794528..212800673,7	MCF-7	breast:
3	chr1:212729371..212731650-chr1:212796450..212799442,2	K562	blood:

Variant related genes	Relation type
ENSG00000224535	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10475	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3122713	0.82[ASW][hapmap]
rs3123543	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3125297	0.82[ASW][hapmap]
rs3795837	0.82[ASW][hapmap]
rs9430097	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212785000-212801000	Weak transcription	Fetal Heart	heart
2	chr1:212790400-212802400	Weak transcription	Thymus	Thymus
3	chr1:212791200-212798200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:212793000-212801200	Weak transcription	Fetal Lung	lung
5	chr1:212793000-212803200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:212793200-212803200	Weak transcription	Spleen	Spleen
7	chr1:212793600-212798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212793600-212803200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:212793600-212803200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:212793600-212810600	Weak transcription	Esophagus	oesophagus
11	chr1:212793800-212798200	Weak transcription	NHEK	skin
12	chr1:212793800-212798400	Weak transcription	Pancreas	Pancrea
13	chr1:212793800-212800400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:212793800-212802400	Weak transcription	Gastric	stomach
15	chr1:212793800-212802800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:212793800-212803000	Weak transcription	Right Ventricle	heart
17	chr1:212793800-212803200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:212794000-212801400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:212794000-212803200	Weak transcription	GM12878-XiMat	blood
20	chr1:212794200-212798000	Weak transcription	Fetal Stomach	stomach
21	chr1:212794200-212798200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:212794200-212803200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:212794400-212798200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:212794400-212798200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:212794400-212798400	Weak transcription	Adipose Nuclei	Adipose
26	chr1:212794400-212799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:212794400-212799200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:212794400-212801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:212794400-212803200	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:212794400-212803600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:212794400-212812200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:212794600-212801400	Weak transcription	Fetal Intestine Large	intestine
33	chr1:212794600-212803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:212794800-212798800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:212794800-212803200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:212794800-212803200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:212795000-212801400	Weak transcription	Liver	Liver
38	chr1:212795200-212798000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:212795200-212798800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:212795200-212800800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:212795200-212802800	Weak transcription	Placenta	Placenta
42	chr1:212795200-212803200	Weak transcription	Left Ventricle	heart
43	chr1:212795600-212800600	Weak transcription	Aorta	Aorta
44	chr1:212796200-212798200	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:212796400-212798800	Weak transcription	Brain Substantia Nigra	brain

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