Variant report

Variant	rs72831604
Chromosome Location	chr2:112897969-112897970
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: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10166396	1.00[ASN][1000 genomes]
rs10170258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10171359	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10172310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174680	1.00[ASN][1000 genomes]
rs10175752	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10183003	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190845	1.00[ASN][1000 genomes]
rs10201041	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10202871	1.00[ASN][1000 genomes]
rs10204140	0.88[AFR][1000 genomes]
rs10204243	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10204653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10204929	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206255	0.88[AFR][1000 genomes]
rs1317633	1.00[ASN][1000 genomes]
rs13391959	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13401258	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13412743	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13418394	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13431260	0.88[AFR][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	1.00[ASN][1000 genomes]
rs56106340	1.00[ASN][1000 genomes]
rs56166956	1.00[ASN][1000 genomes]
rs66470738	1.00[ASN][1000 genomes]
rs72829658	0.88[AFR][1000 genomes]
rs72829697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831605	1.00[ASN][1000 genomes]
rs72831609	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:10 , 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
8	esv14942	chr2:112895791-112898036	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1808561	chr2:112896573-112898163	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1848311	chr2:112896573-112898163	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:76 , 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	chr2:112896000-112898000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:112896000-112898400	Active TSS	Right Ventricle	heart
16	chr2:112896400-112898000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:112896400-112898000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
19	chr2:112896600-112898000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:112896800-112898600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr2:112896800-112898800	Weak transcription	HepG2	liver
22	chr2:112896800-112907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:112897600-112898400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:112897800-112898000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:112897800-112898000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:112897800-112898000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:112897800-112898000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:112897800-112898000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:112897800-112898000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:112897800-112898000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr2:112897800-112898000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr2:112897800-112898000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
33	chr2:112897800-112898000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
34	chr2:112897800-112898000	Enhancers	Gastric	stomach
35	chr2:112897800-112898000	Flanking Active TSS	Pancreas	Pancrea
36	chr2:112897800-112898000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
37	chr2:112897800-112898000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr2:112897800-112898000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:112897800-112898000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
40	chr2:112897800-112898000	Enhancers	HUVEC	blood vessel
41	chr2:112897800-112898200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:112897800-112898200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:112897800-112898200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:112897800-112898200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr2:112897800-112898200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr2:112897800-112898200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:112897800-112898200	Enhancers	Brain Anterior Caudate	brain
48	chr2:112897800-112898200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
49	chr2:112897800-112898200	Enhancers	Brain Hippocampus Middle	brain
50	chr2:112897800-112898200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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