Variant report

Variant	rs62263600
Chromosome Location	chr3:50149270-50149271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49899384..49901506-chr3:50147689..50150023,2	K562	blood:

Variant related genes	Relation type
ENSG00000164076	Chromatin interaction
ENSG00000264706	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11130223	0.87[AMR][1000 genomes]
rs11130225	0.87[AMR][1000 genomes]
rs11130230	0.87[AMR][1000 genomes]
rs11130237	0.83[AMR][1000 genomes]
rs11130239	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11916261	0.87[AMR][1000 genomes]
rs11916999	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920034	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923132	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11924670	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924711	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925156	0.87[AMR][1000 genomes]
rs11928995	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486470	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489386	0.87[AMR][1000 genomes]
rs12492291	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493565	0.82[AMR][1000 genomes]
rs12494077	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494172	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494916	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495114	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495831	0.87[AMR][1000 genomes]
rs12630917	0.87[AMR][1000 genomes]
rs12630959	0.87[AMR][1000 genomes]
rs12631248	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631608	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12632751	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636045	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636232	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636449	0.90[EUR][1000 genomes]
rs12637681	0.87[AMR][1000 genomes]
rs13100903	0.94[ASN][1000 genomes]
rs1317215	0.87[AMR][1000 genomes]
rs13326300	0.87[AMR][1000 genomes]
rs2003485	0.87[ASN][1000 genomes]
rs2023951	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023952	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478136	0.87[AMR][1000 genomes]
rs35333166	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41291716	0.87[AMR][1000 genomes]
rs55643042	0.87[AMR][1000 genomes]
rs57575459	0.87[AMR][1000 genomes]
rs58025924	0.87[AMR][1000 genomes]
rs58621288	0.87[AMR][1000 genomes]
rs58766761	0.87[AMR][1000 genomes]
rs59802870	1.00[ASN][1000 genomes]
rs60429865	0.84[EUR][1000 genomes]
rs62260756	0.87[AMR][1000 genomes]
rs62260770	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260771	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260773	0.86[EUR][1000 genomes]
rs62262060	0.87[AMR][1000 genomes]
rs62262095	0.87[AMR][1000 genomes]
rs62262100	0.87[AMR][1000 genomes]
rs62262105	0.87[AMR][1000 genomes]
rs62262117	0.87[AMR][1000 genomes]
rs62262136	0.81[AMR][1000 genomes]
rs62262145	0.87[AMR][1000 genomes]
rs62263580	0.81[EUR][1000 genomes]
rs62263584	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263586	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263588	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263590	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263591	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263596	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263597	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6797500	0.87[AMR][1000 genomes]
rs9813644	0.87[AMR][1000 genomes]
rs9859813	0.87[AMR][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	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv818139	chr3:50144951-50174572	Weak transcription Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 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	chr3:50127400-50150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:50127800-50157800	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr3:50128000-50152600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:50128000-50157800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:50128000-50158000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:50128000-50158000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:50128200-50152800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr3:50128200-50158800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:50128400-50157800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:50128400-50158200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:50128400-50158400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:50128400-50159000	Strong transcription	Lung	lung
13	chr3:50128600-50156200	Strong transcription	Ovary	ovary
14	chr3:50128600-50158000	Strong transcription	NH-A	brain
15	chr3:50128600-50158400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:50128600-50158400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:50128600-50158600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:50128600-50158600	Strong transcription	Colonic Mucosa	Colon
19	chr3:50128600-50158800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:50128600-50158800	Strong transcription	Brain Germinal Matrix	brain
21	chr3:50128600-50158800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr3:50128600-50159000	Strong transcription	Brain Angular Gyrus	brain
23	chr3:50128600-50159000	Strong transcription	Placenta	Placenta
24	chr3:50128600-50159000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:50128600-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:50128600-50159200	Strong transcription	Liver	Liver
27	chr3:50128600-50159200	Strong transcription	NHEK	skin
28	chr3:50128600-50160400	Strong transcription	Fetal Thymus	thymus
29	chr3:50128800-50156600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:50128800-50156600	Strong transcription	Brain Substantia Nigra	brain
31	chr3:50128800-50158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:50128800-50158600	Strong transcription	HMEC	breast
33	chr3:50128800-50159000	Strong transcription	Brain Anterior Caudate	brain
34	chr3:50129000-50158600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:50129000-50158600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr3:50129000-50158800	Strong transcription	Fetal Intestine Large	intestine
37	chr3:50129000-50159000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:50129000-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:50129000-50159200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:50129000-50159400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:50129000-50159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:50129000-50160000	Strong transcription	Fetal Stomach	stomach
43	chr3:50129000-50160000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr3:50129000-50160800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:50129200-50157600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
46	chr3:50129200-50158600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr3:50129200-50158800	Strong transcription	Primary B cells from cord blood	blood
48	chr3:50129200-50158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:50129200-50158800	Strong transcription	Brain Hippocampus Middle	brain
50	chr3:50129200-50159000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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