Variant report

Variant	rs17224122
Chromosome Location	chr2:47630712-47630713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47630246..47631210-chr5:138533675..138534481,2	Hela-S3	cervix:
2	chr2:47629900..47631449-chr2:48009384..48011204,2	K562	blood:
3	chr2:47592763..47599978-chr2:47628456..47631890,7	K562	blood:
4	chr2:47630652..47632371-chr2:47633998..47636447,2	MCF-7	breast:
5	chr2:47401987..47404848-chr2:47628320..47632624,5	MCF-7	breast:
6	chr2:47570416..47573787-chr2:47628581..47633320,5	MCF-7	breast:
7	chr2:47595432..47597958-chr2:47630032..47632167,2	K562	blood:
8	chr2:47630144..47631042-chr7:26240246..26240807,2	Hela-S3	cervix:
9	chr1:113216965..113217848-chr2:47630092..47631029,2	Hela-S3	cervix:
10	chr2:47629202..47631353-chr20:52209184..52210821,2	MCF-7	breast:
11	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
12	chr2:47595241..47598489-chr2:47628033..47632018,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120725	Chromatin interaction
ENSG00000119888	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000234690	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000116062	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17036586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036616	1.00[AMR][1000 genomes]
rs17039236	1.00[AMR][1000 genomes]
rs17217849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17217961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17218648	1.00[AMR][1000 genomes]
rs17224724	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17224815	1.00[AMR][1000 genomes]
rs1800151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55815447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55905016	1.00[AMR][1000 genomes]
rs56076616	1.00[AMR][1000 genomes]
rs56958162	1.00[AMR][1000 genomes]
rs56983268	1.00[AMR][1000 genomes]
rs57972954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012164	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58080795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974084	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60121180	1.00[AMR][1000 genomes]
rs60512750	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61282650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61635665	1.00[AMR][1000 genomes]
rs72882725	1.00[AMR][1000 genomes]
rs72882752	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882786	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882796	1.00[AMR][1000 genomes]
rs72882802	1.00[AMR][1000 genomes]
rs72884625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72884676	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886358	1.00[AMR][1000 genomes]
rs72888237	1.00[AMR][1000 genomes]
rs72888238	1.00[AMR][1000 genomes]
rs72888263	1.00[AMR][1000 genomes]
rs73927791	0.86[AFR][1000 genomes]
rs73927793	0.97[AFR][1000 genomes]
rs73927801	1.00[AMR][1000 genomes]
rs73927802	1.00[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47629000-47631200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:47629000-47631200	Active TSS	Fetal Brain Female	brain
3	chr2:47629000-47631200	Active TSS	Fetal Intestine Large	intestine
4	chr2:47629200-47631000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:47629200-47631000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:47629200-47631000	Active TSS	Fetal Lung	lung
7	chr2:47629200-47631000	Active TSS	Right Ventricle	heart
8	chr2:47629200-47631200	Active TSS	Fetal Kidney	kidney
9	chr2:47629200-47631600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:47629200-47632400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:47629400-47630800	Active TSS	Brain Angular Gyrus	brain
12	chr2:47629400-47630800	Active TSS	Pancreas	Pancrea
13	chr2:47629400-47630800	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:47629400-47631000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:47629400-47631000	Active TSS	Brain Anterior Caudate	brain
16	chr2:47629400-47631000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:47629400-47631200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:47629400-47631200	Active TSS	Colon Smooth Muscle	Colon
19	chr2:47629400-47631200	Active TSS	Psoas Muscle	Psoas
20	chr2:47629400-47631200	Active TSS	Stomach Mucosa	stomach
21	chr2:47629400-47631400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:47629400-47631400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:47629400-47632200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:47629600-47630800	Active TSS	Duodenum Mucosa	Duodenum
25	chr2:47629600-47631000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:47629600-47631000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:47629600-47631000	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr2:47629600-47631000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:47629600-47631000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:47629600-47631000	Active TSS	Esophagus	oesophagus
31	chr2:47629600-47631000	Active TSS	Fetal Heart	heart
32	chr2:47629600-47631000	Active TSS	Fetal Intestine Small	intestine
33	chr2:47629600-47631000	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:47629600-47631000	Active TSS	Lung	lung
35	chr2:47629600-47631000	Active TSS	Ovary	ovary
36	chr2:47629600-47631000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr2:47629600-47631000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:47629600-47631000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr2:47629600-47631000	Active TSS	NHLF	lung
40	chr2:47629600-47631200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:47629600-47631200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:47629600-47631200	Active TSS	Right Atrium	heart
43	chr2:47629600-47631200	Active TSS	Small Intestine	intestine
44	chr2:47629600-47631200	Active TSS	HSMMtube	muscle
45	chr2:47629600-47631400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr2:47629600-47631400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:47629600-47631600	Active TSS	Left Ventricle	heart
48	chr2:47629600-47632000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:47629800-47630800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:47629800-47630800	Active TSS	Rectal Mucosa Donor 31	rectum

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