Variant report

Variant	rs72997201
Chromosome Location	chr1:155627126-155627127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155625229..155627200-chr1:155627769..155629453,2	K562	blood:
2	chr1:155614938..155616733-chr1:155625916..155628423,2	K562	blood:
3	chr1:155619254..155623405-chr1:155624294..155627558,5	K562	blood:
4	chr1:155619254..155623405-chr1:155624023..155627558,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58816734	1.00[AFR][1000 genomes]
rs59938922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997183	1.00[AFR][1000 genomes]
rs72997202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155615400-155628600	Weak transcription	Right Ventricle	heart
2	chr1:155615600-155628400	Weak transcription	Left Ventricle	heart
3	chr1:155615600-155628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:155616000-155628200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:155616400-155628800	Weak transcription	Small Intestine	intestine
6	chr1:155617000-155628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:155617800-155637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:155618600-155628000	Weak transcription	Fetal Thymus	thymus
9	chr1:155618800-155628000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:155618800-155628000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:155618800-155628400	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:155618800-155628400	Weak transcription	Fetal Lung	lung
13	chr1:155618800-155628800	Weak transcription	Colonic Mucosa	Colon
14	chr1:155618800-155631800	Weak transcription	K562	blood
15	chr1:155619000-155627600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:155619000-155628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:155619000-155628000	Weak transcription	Liver	Liver
18	chr1:155620400-155627800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:155620600-155628200	Weak transcription	Ovary	ovary
20	chr1:155620800-155628200	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:155620800-155628400	Weak transcription	Psoas Muscle	Psoas
22	chr1:155621000-155628200	Weak transcription	Fetal Brain Male	brain
23	chr1:155621000-155628200	Weak transcription	Lung	lung
24	chr1:155621200-155628000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:155621400-155628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:155621400-155628200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:155621600-155628000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:155621600-155628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:155621600-155628000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:155621600-155628200	Weak transcription	Fetal Brain Female	brain
31	chr1:155621600-155628400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:155621600-155628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:155621800-155628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:155621800-155628400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:155621800-155628400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:155621800-155628800	Weak transcription	Aorta	Aorta
37	chr1:155622000-155627200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:155622000-155628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:155622000-155628000	Weak transcription	Esophagus	oesophagus
40	chr1:155622000-155628000	Weak transcription	Placenta	Placenta
41	chr1:155622000-155628400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:155622000-155628400	Weak transcription	NH-A	brain
43	chr1:155622200-155627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:155622200-155628000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:155622200-155628000	Weak transcription	HSMM	muscle
46	chr1:155622200-155628200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:155622200-155628200	Weak transcription	HSMMtube	muscle
48	chr1:155622200-155628400	Weak transcription	NHLF	lung
49	chr1:155622400-155628200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:155622400-155628200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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