Variant report

Variant	rs73088535
Chromosome Location	chr1:212629145-212629146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211871766..211872437-chr1:212628934..212629488,2	K562	blood:
2	chr1:212628946..212629890-chr1:212838453..212839228,2	K562	blood:
3	chr1:212540519..212541569-chr1:212628751..212630135,3	K562	blood:
4	chr1:212235956..212236900-chr1:212628594..212629549,5	K562	blood:
5	chr1:212622646..212625445-chr1:212627199..212631249,4	K562	blood:
6	chr1:212626698..212637479-chr1:212779685..212784714,19	K562	blood:
7	chr1:212628599..212634071-chr1:212780005..212784953,9	K562	blood:
8	chr1:212540816..212542855-chr1:212627781..212629569,2	K562	blood:
9	chr1:211854193..211854711-chr1:212629143..212629667,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000237980	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11571524	1.00[AMR][1000 genomes]
rs11571533	1.00[AMR][1000 genomes]
rs11571535	1.00[AMR][1000 genomes]
rs11571558	1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58475088	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs73075890	1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	1.00[AMR][1000 genomes]
rs73077745	1.00[AMR][1000 genomes]
rs73077750	1.00[AMR][1000 genomes]
rs73077752	1.00[AMR][1000 genomes]
rs73077765	1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73088538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv873157	chr1:212610755-212640982	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv873158	chr1:212610755-212646225	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212607400-212629200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:212607800-212629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:212614400-212629200	Weak transcription	GM12878-XiMat	blood
4	chr1:212614400-212636800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:212619600-212629200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:212619600-212636800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:212619800-212629200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:212619800-212629200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:212620000-212631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:212620200-212629200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:212620200-212629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:212620200-212631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:212620800-212629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212620800-212629200	Weak transcription	Fetal Intestine Large	intestine
15	chr1:212622400-212631000	Enhancers	Fetal Muscle Leg	muscle
16	chr1:212622800-212629400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:212623000-212629400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:212624400-212629200	Weak transcription	Fetal Thymus	thymus
19	chr1:212624800-212630000	Weak transcription	Esophagus	oesophagus
20	chr1:212626400-212629200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:212626400-212629400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:212626600-212629400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:212626600-212629600	Weak transcription	Fetal Lung	lung
24	chr1:212626800-212629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:212626800-212629200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:212626800-212629200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:212626800-212629200	Weak transcription	Placenta	Placenta
28	chr1:212626800-212629200	Weak transcription	NHDF-Ad	bronchial
29	chr1:212626800-212629200	Weak transcription	NHLF	lung
30	chr1:212626800-212629200	Weak transcription	Osteobl	bone
31	chr1:212626800-212629400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:212626800-212629400	Weak transcription	HSMM	muscle
33	chr1:212627000-212629200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:212627000-212629200	Weak transcription	Fetal Brain Female	brain
35	chr1:212627000-212629200	Weak transcription	Pancreas	Pancrea
36	chr1:212627000-212629600	Weak transcription	Fetal Stomach	stomach
37	chr1:212627200-212629200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:212627200-212629400	Weak transcription	Psoas Muscle	Psoas
39	chr1:212627200-212629400	Weak transcription	HSMMtube	muscle
40	chr1:212627200-212629600	Weak transcription	Right Atrium	heart
41	chr1:212627400-212629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:212627400-212629200	Weak transcription	Left Ventricle	heart
43	chr1:212627400-212629200	Weak transcription	Right Ventricle	heart
44	chr1:212627400-212629400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:212627400-212629600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:212627400-212631600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:212627400-212631600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:212627400-212631800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:212627600-212629600	Weak transcription	Aorta	Aorta
50	chr1:212628400-212629400	Enhancers	Brain Cingulate Gyrus	brain

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