Variant report

Variant	rs62262136
Chromosome Location	chr3:50011101-50011102
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49977360..49980004-chr3:50009456..50011405,3	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11130223	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11130225	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11130230	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130237	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130239	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130240	0.86[ASN][1000 genomes]
rs11916261	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11923132	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11924670	0.81[AMR][1000 genomes]
rs11924711	0.81[AMR][1000 genomes]
rs11925156	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12486470	0.81[AMR][1000 genomes]
rs12486808	0.86[ASN][1000 genomes]
rs12486832	0.86[ASN][1000 genomes]
rs12489386	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12490944	0.86[ASN][1000 genomes]
rs12492291	0.81[AMR][1000 genomes]
rs12493565	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12495831	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12629129	0.86[ASN][1000 genomes]
rs12629553	0.86[ASN][1000 genomes]
rs12629677	0.86[ASN][1000 genomes]
rs12630917	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12630959	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12631306	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12631309	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12631608	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12632751	0.81[AMR][1000 genomes]
rs12636045	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12636669	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12637222	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12637457	0.86[ASN][1000 genomes]
rs12637681	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12638046	0.86[ASN][1000 genomes]
rs2023951	0.81[AMR][1000 genomes]
rs35333166	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs41291716	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55643042	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57009357	0.86[ASN][1000 genomes]
rs57575459	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58025924	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58621288	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58766761	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61491513	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61729114	0.86[ASN][1000 genomes]
rs62262095	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62262096	0.86[ASN][1000 genomes]
rs62262099	0.86[ASN][1000 genomes]
rs62262100	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62262104	0.86[ASN][1000 genomes]
rs62262105	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262116	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262117	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262138	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262144	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262145	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262148	0.86[ASN][1000 genomes]
rs62263578	0.86[ASN][1000 genomes]
rs62263588	0.81[AMR][1000 genomes]
rs62263590	0.81[AMR][1000 genomes]
rs62263600	0.81[AMR][1000 genomes]
rs9813644	0.81[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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	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
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:49992200-50037000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:49995400-50033200	Weak transcription	Fetal Brain Male	brain
4	chr3:49997800-50013800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:49998000-50078200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:49998400-50029600	Weak transcription	Fetal Heart	heart
7	chr3:49998400-50078600	Weak transcription	K562	blood
8	chr3:49998800-50019600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:49999800-50028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:50000000-50019600	Strong transcription	Dnd41	blood
11	chr3:50002200-50057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:50003000-50033400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:50003800-50014600	Weak transcription	HSMMtube	muscle
14	chr3:50004200-50016000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr3:50004400-50027600	Weak transcription	NHEK	skin
16	chr3:50004400-50044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:50004800-50012600	Strong transcription	Fetal Intestine Small	intestine
18	chr3:50005000-50012600	Strong transcription	Fetal Stomach	stomach
19	chr3:50005000-50017400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:50005000-50027600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:50005000-50031400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:50005000-50036800	Weak transcription	Small Intestine	intestine
23	chr3:50005200-50033400	Weak transcription	Esophagus	oesophagus
24	chr3:50005200-50046400	Weak transcription	Psoas Muscle	Psoas
25	chr3:50005200-50050600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:50005400-50022000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:50005400-50022200	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:50005400-50036800	Weak transcription	Brain Anterior Caudate	brain
29	chr3:50006000-50064000	Weak transcription	Stomach Mucosa	stomach
30	chr3:50006200-50012600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:50006200-50014600	Weak transcription	Brain Substantia Nigra	brain
32	chr3:50006200-50027800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:50006200-50028200	Weak transcription	Right Ventricle	heart
34	chr3:50006200-50040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:50007000-50017600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:50007600-50020000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:50008200-50013800	Weak transcription	Hela-S3	cervix
38	chr3:50008400-50011800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:50008600-50050400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:50008800-50016000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:50009000-50011600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:50009000-50011600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:50009000-50013200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:50009000-50013400	Strong transcription	Fetal Intestine Large	intestine
45	chr3:50009000-50013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:50009000-50022800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:50009200-50011400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:50009200-50013000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:50009200-50013200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:50009200-50017800	Strong transcription	Fetal Thymus	thymus

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