Variant report

Variant	rs73107693
Chromosome Location	chr2:233565446-233565447
allele	A/C
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:5)
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	chr2:233565422-233565470	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233564546..233567333-chr2:233571993..233574146,2	K562	blood:
2	chr2:233565184..233567187-chr2:233578536..233582412,3	MCF-7	breast:
3	chr2:233562962..233565783-chr2:233575751..233577379,2	MCF-7	breast:
4	chr2:233562305..233563943-chr2:233565378..233568018,2	MCF-7	breast:
5	chr2:233563237..233565660-chr2:233566508..233568709,2	K562	blood:

No data

Variant related genes	Relation type
GIGYF2	TF binding region
ENSG00000204120	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11883745	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883794	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11884898	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11885029	0.80[EUR][1000 genomes]
rs11885497	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11885646	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11890879	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11892639	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11894688	0.83[EUR][1000 genomes]
rs11897789	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11900295	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11900327	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11901015	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11904714	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2271702	0.85[EUR][1000 genomes]
rs2289913	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2293781	1.00[EUR][1000 genomes]
rs2305138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2344614	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2880899	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34487721	0.85[EUR][1000 genomes]
rs3738904	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3816336	1.00[EUR][1000 genomes]
rs3817310	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4144794	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55686138	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55913849	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56140815	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56344253	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56953250	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57092158	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57211905	1.00[EUR][1000 genomes]
rs57513852	0.85[EUR][1000 genomes]
rs57657135	0.95[EUR][1000 genomes]
rs57667610	0.81[EUR][1000 genomes]
rs57986228	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58268778	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58466616	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58520085	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58835825	0.85[EUR][1000 genomes]
rs59488869	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59502980	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59514271	0.95[EUR][1000 genomes]
rs59667905	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60103392	0.81[EUR][1000 genomes]
rs60532570	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61518838	0.95[EUR][1000 genomes]
rs6719766	0.80[EUR][1000 genomes]
rs73092767	0.95[EUR][1000 genomes]
rs73092790	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102244	0.95[EUR][1000 genomes]
rs73102257	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102286	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73106355	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73106363	0.83[EUR][1000 genomes]
rs73108328	0.85[EUR][1000 genomes]
rs73108346	0.83[EUR][1000 genomes]
rs73995715	0.80[EUR][1000 genomes]
rs73999707	0.83[EUR][1000 genomes]
rs7560000	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7564410	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7578385	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7598518	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7601559	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7606011	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233563200-233566600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr2:233563200-233567600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:233563200-233569000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:233563200-233572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233563400-233565800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr2:233563400-233568600	Weak transcription	Aorta	Aorta
7	chr2:233563400-233569000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:233563600-233566400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:233563600-233566600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:233563600-233566600	Enhancers	Adipose Nuclei	Adipose
11	chr2:233563800-233565600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:233563800-233565600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:233563800-233567600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:233563800-233567600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:233563800-233582600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:233564000-233565600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:233564000-233566000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:233564000-233568200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:233564000-233568600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:233564000-233568800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:233564000-233570600	Weak transcription	Fetal Kidney	kidney
22	chr2:233564000-233570800	Weak transcription	HSMMtube	muscle
23	chr2:233564000-233579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:233564000-233589000	Weak transcription	NH-A	brain
25	chr2:233564200-233565600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:233564200-233565600	Enhancers	Brain Angular Gyrus	brain
27	chr2:233564200-233566000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:233564200-233566000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:233564200-233566000	Weak transcription	Left Ventricle	heart
30	chr2:233564200-233566000	Weak transcription	Pancreas	Pancrea
31	chr2:233564200-233566000	Weak transcription	Psoas Muscle	Psoas
32	chr2:233564200-233566000	Weak transcription	Small Intestine	intestine
33	chr2:233564200-233566200	Weak transcription	Spleen	Spleen
34	chr2:233564200-233566800	Enhancers	Ovary	ovary
35	chr2:233564200-233567200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:233564200-233567200	Weak transcription	Fetal Thymus	thymus
37	chr2:233564200-233567600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:233564200-233567800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:233564200-233567800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:233564200-233568200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:233564200-233568400	Weak transcription	Colonic Mucosa	Colon
42	chr2:233564200-233568400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:233564200-233568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:233564200-233568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:233564200-233568600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:233564200-233568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:233564200-233568600	Weak transcription	Esophagus	oesophagus
48	chr2:233564200-233568600	Weak transcription	Lung	lung
49	chr2:233564200-233568800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:233564200-233570000	Weak transcription	H1 Cell Line	embryonic stem cell

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