Variant report

Variant	rs72831605
Chromosome Location	chr2:112898181-112898182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112896674..112899558-chr2:113471538..113473155,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10166396	1.00[ASN][1000 genomes]
rs10174680	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182451	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10185224	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10190845	1.00[ASN][1000 genomes]
rs10201778	0.93[EUR][1000 genomes]
rs10202871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1317633	1.00[ASN][1000 genomes]
rs13422534	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17041977	1.00[ASN][1000 genomes]
rs2312695	1.00[ASN][1000 genomes]
rs35586251	1.00[ASN][1000 genomes]
rs4849052	1.00[ASN][1000 genomes]
rs55958600	1.00[ASN][1000 genomes]
rs56090586	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166956	1.00[ASN][1000 genomes]
rs56371451	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66470738	1.00[ASN][1000 genomes]
rs72829697	1.00[ASN][1000 genomes]
rs72831604	1.00[ASN][1000 genomes]
rs72831609	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831611	1.00[ASN][1000 genomes]
rs72831613	1.00[ASN][1000 genomes]
rs72831616	1.00[ASN][1000 genomes]
rs72831617	1.00[ASN][1000 genomes]
rs72831618	1.00[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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112895200-112898200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:112895400-112898600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:112895400-112898600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:112895600-112898600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:112895600-112898600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112895600-112898800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:112895800-112898200	Active TSS	Osteobl	bone
8	chr2:112895800-112898400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr2:112895800-112898400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:112895800-112898400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:112895800-112898600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:112895800-112898600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:112895800-112898600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:112896000-112898400	Active TSS	Right Ventricle	heart
15	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
16	chr2:112896800-112898600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr2:112896800-112898800	Weak transcription	HepG2	liver
18	chr2:112896800-112907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:112897600-112898400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:112897800-112898200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:112897800-112898200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:112897800-112898200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:112897800-112898200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr2:112897800-112898200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr2:112897800-112898200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:112897800-112898200	Enhancers	Brain Anterior Caudate	brain
27	chr2:112897800-112898200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr2:112897800-112898200	Enhancers	Brain Hippocampus Middle	brain
29	chr2:112897800-112898200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:112897800-112898200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
31	chr2:112897800-112898200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:112897800-112898200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr2:112897800-112898200	Bivalent Enhancer	Fetal Brain Male	brain
34	chr2:112897800-112898200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr2:112897800-112898200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:112897800-112898200	Flanking Active TSS	Placenta	Placenta
37	chr2:112897800-112898200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr2:112897800-112898200	Enhancers	Left Ventricle	heart
39	chr2:112897800-112898200	Enhancers	Lung	lung
40	chr2:112897800-112898200	Bivalent Enhancer	Psoas Muscle	Psoas
41	chr2:112897800-112898200	Active TSS	Right Atrium	heart
42	chr2:112897800-112898400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:112897800-112898400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:112897800-112898400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:112897800-112898400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:112897800-112898400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:112897800-112898400	Active TSS	Brain Angular Gyrus	brain
48	chr2:112897800-112898400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:112897800-112898400	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr2:112897800-112898400	Active TSS	Fetal Kidney	kidney

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