Variant report

Variant	rs72889604
Chromosome Location	chr2:48579359-48579360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48578562..48582388-chr2:48582784..48586939,6	K562	blood:
2	chr2:48578681..48582388-chr2:48582784..48586647,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17037226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039245	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56806229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59044598	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61405465	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6545032	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709977	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711828	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728719	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6731708	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6751375	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757806	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883965	1.00[AMR][1000 genomes]
rs72883976	1.00[AMR][1000 genomes]
rs72883981	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885740	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885750	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885760	1.00[AMR][1000 genomes]
rs72885796	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885801	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7606543	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9678904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48569000-48580000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
3	chr2:48571600-48580000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:48572200-48597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:48572400-48580000	Weak transcription	Stomach Mucosa	stomach
6	chr2:48573200-48579400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:48573400-48583200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48573600-48579400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:48573600-48579400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr2:48573600-48604000	Weak transcription	Ovary	ovary
11	chr2:48574200-48581000	Genic enhancers	HepG2	liver
12	chr2:48574200-48602000	Weak transcription	Gastric	stomach
13	chr2:48574600-48602000	Weak transcription	Small Intestine	intestine
14	chr2:48574800-48589600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:48574800-48589600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:48576200-48579400	Weak transcription	Fetal Heart	heart
17	chr2:48576200-48579600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:48576200-48579600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:48576200-48579800	Weak transcription	NH-A	brain
20	chr2:48576200-48580000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:48576200-48580400	Weak transcription	Left Ventricle	heart
22	chr2:48576200-48583800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:48576200-48597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:48576200-48602000	Weak transcription	Lung	lung
25	chr2:48576400-48579800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:48576400-48579800	Weak transcription	Hela-S3	cervix
27	chr2:48576400-48580200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:48576400-48583800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:48576400-48590000	Weak transcription	Placenta	Placenta
30	chr2:48576600-48581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:48576600-48595600	Weak transcription	Fetal Brain Female	brain
32	chr2:48576600-48602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:48577000-48579800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:48577000-48580200	Weak transcription	Fetal Lung	lung
35	chr2:48577000-48580400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:48577000-48580800	Enhancers	Brain Anterior Caudate	brain
37	chr2:48577000-48581400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:48577000-48583800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:48577200-48579600	Strong transcription	NHEK	skin
40	chr2:48577200-48580200	Enhancers	Brain Substantia Nigra	brain
41	chr2:48577200-48581600	Enhancers	Brain Hippocampus Middle	brain
42	chr2:48577600-48579600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:48577600-48579800	Strong transcription	K562	blood
44	chr2:48577600-48580000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:48577600-48581600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:48577600-48584200	Weak transcription	Thymus	Thymus
47	chr2:48577600-48589600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:48577600-48589600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:48577800-48579600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:48577800-48579800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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