Variant report

Variant	rs2589067
Chromosome Location	chr2:55508122-55508123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55506288-55508158	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55507639..55510296-chr2:55843126..55844712,2	K562	blood:
2	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
3	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
4	chr2:55507859..55511177-chr2:55645007..55647398,3	K562	blood:
5	chr2:55450683..55452300-chr2:55507599..55509366,2	K562	blood:
6	chr2:55458112..55461105-chr2:55507986..55510921,3	MCF-7	breast:

No data

Variant related genes	Relation type
PRORSD1P	TF binding region
ENSG00000085760	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000227799	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10209598	0.85[ASN][1000 genomes]
rs10496041	0.80[ASN][1000 genomes]
rs11125562	0.85[ASN][1000 genomes]
rs11892007	0.85[ASN][1000 genomes]
rs11904107	0.85[ASN][1000 genomes]
rs12104902	0.85[ASN][1000 genomes]
rs12105322	0.85[ASN][1000 genomes]
rs12105731	0.85[ASN][1000 genomes]
rs12617316	0.85[ASN][1000 genomes]
rs13016664	0.85[ASN][1000 genomes]
rs13407931	0.85[ASN][1000 genomes]
rs1437387	0.85[ASN][1000 genomes]
rs1437388	0.85[ASN][1000 genomes]
rs1545120	0.85[ASN][1000 genomes]
rs17046834	0.80[ASN][1000 genomes]
rs2249856	0.85[ASN][1000 genomes]
rs2576691	0.85[ASN][1000 genomes]
rs2576692	0.85[ASN][1000 genomes]
rs2576693	0.85[ASN][1000 genomes]
rs2576694	0.80[ASN][1000 genomes]
rs2576697	0.85[ASN][1000 genomes]
rs2576698	0.85[ASN][1000 genomes]
rs2576702	0.85[ASN][1000 genomes]
rs2589060	0.85[ASN][1000 genomes]
rs2589061	0.85[ASN][1000 genomes]
rs2589063	0.85[ASN][1000 genomes]
rs2589110	0.85[ASN][1000 genomes]
rs2589111	0.85[ASN][1000 genomes]
rs2589112	0.85[ASN][1000 genomes]
rs2589113	0.85[ASN][1000 genomes]
rs2589114	0.85[ASN][1000 genomes]
rs2589115	0.81[ASN][1000 genomes]
rs2589116	0.85[ASN][1000 genomes]
rs2589117	0.85[ASN][1000 genomes]
rs2917781	0.80[ASN][1000 genomes]
rs2920959	0.85[ASN][1000 genomes]
rs2920972	0.85[ASN][1000 genomes]
rs57105158	0.85[ASN][1000 genomes]
rs59554860	0.80[ASN][1000 genomes]
rs6705991	0.85[ASN][1000 genomes]
rs6718747	0.85[ASN][1000 genomes]
rs6721211	0.85[ASN][1000 genomes]
rs6726732	0.85[ASN][1000 genomes]
rs6733567	0.85[ASN][1000 genomes]
rs6740631	0.85[ASN][1000 genomes]
rs6746287	0.85[ASN][1000 genomes]
rs73939905	0.85[ASN][1000 genomes]
rs9784090	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	14 gene(s)	inside rSNPs	diseases
4	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55496600-55508800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:55497000-55508800	Weak transcription	Right Atrium	heart
3	chr2:55497400-55508800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55497600-55508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:55501000-55517000	Weak transcription	Hela-S3	cervix
6	chr2:55504800-55508800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:55505400-55508800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:55505400-55508800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:55505600-55508800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:55506000-55508600	Enhancers	K562	blood
11	chr2:55506600-55508600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:55506600-55508800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:55506800-55508800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:55506800-55508800	Weak transcription	Pancreas	Pancrea
15	chr2:55507000-55508800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:55507200-55508600	Enhancers	NHEK	skin
17	chr2:55507400-55508800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:55507400-55509000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:55507400-55509000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:55507600-55508800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:55507600-55509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:55507600-55509400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:55507800-55508200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:55507800-55508200	Enhancers	HepG2	liver
25	chr2:55507800-55508600	Weak transcription	Stomach Mucosa	stomach
26	chr2:55507800-55508800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:55507800-55508800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:55507800-55508800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:55507800-55508800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:55507800-55508800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:55507800-55508800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:55507800-55508800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:55507800-55508800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:55507800-55508800	Weak transcription	HSMMtube	muscle
35	chr2:55507800-55509000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:55507800-55509000	Enhancers	HMEC	breast
37	chr2:55507800-55509200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr2:55507800-55509200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:55507800-55509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:55508000-55508400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:55508000-55508800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:55508000-55508800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:55508000-55510600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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