Variant report

Variant	rs62256000
Chromosome Location	chr3:53280735-53280736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53278235..53282176-chr3:53286915..53291118,4	K562	blood:
2	chr3:53272323..53274896-chr3:53279017..53281047,2	MCF-7	breast:
3	chr3:53280225..53283761-chr3:53288305..53291805,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10433617	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433618	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108506	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11551405	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17030933	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030934	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17234771	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17235667	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41275543	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56654807	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58558806	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59145995	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255989	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62255993	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255999	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256003	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256009	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256043	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256049	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256050	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62256053	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256962	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256964	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62256965	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62256966	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62256968	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62256969	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62257004	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62257007	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62257009	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62257011	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62257013	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62257024	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6780100	0.82[AMR][1000 genomes]
rs73080266	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73080271	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73080273	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73080295	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73082274	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7622159	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9830594	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830895	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846315	0.89[EUR][1000 genomes]
rs9850440	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864057	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53272400-53282200	Genic enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:53272800-53286600	Weak transcription	Fetal Brain Male	brain
3	chr3:53272800-53288000	Weak transcription	Fetal Kidney	kidney
4	chr3:53274400-53283600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:53275000-53281600	Weak transcription	K562	blood
6	chr3:53275400-53283200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:53276000-53283400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:53276200-53283800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:53276200-53287400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:53276400-53283400	Weak transcription	Liver	Liver
11	chr3:53276400-53283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:53276400-53283600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:53276400-53283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr3:53276400-53284000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:53276600-53281400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr3:53276600-53281600	Weak transcription	Thymus	Thymus
17	chr3:53276600-53285200	Weak transcription	HSMM	muscle
18	chr3:53277200-53281800	Weak transcription	GM12878-XiMat	blood
19	chr3:53277200-53285600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:53277600-53281800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr3:53277600-53286200	Weak transcription	Fetal Intestine Large	intestine
22	chr3:53277800-53282000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:53277800-53284800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:53278000-53281800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:53278000-53282200	Weak transcription	Colonic Mucosa	Colon
26	chr3:53278200-53281800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:53278200-53281800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:53278400-53284200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:53278400-53284800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:53278600-53281600	Weak transcription	HUVEC	blood vessel
31	chr3:53278600-53282200	Weak transcription	Primary B cells from cord blood	blood
32	chr3:53278600-53283600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:53278600-53283800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:53278600-53284800	Weak transcription	NH-A	brain
35	chr3:53278600-53285400	Weak transcription	Ovary	ovary
36	chr3:53278600-53285600	Weak transcription	Aorta	Aorta
37	chr3:53278600-53288000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:53278800-53281400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:53278800-53281400	Weak transcription	Right Atrium	heart
40	chr3:53278800-53281600	Weak transcription	Primary T cells from cord blood	blood
41	chr3:53278800-53281800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:53278800-53281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:53278800-53281800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:53278800-53281800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:53278800-53281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:53278800-53281800	Weak transcription	Brain Angular Gyrus	brain
47	chr3:53278800-53281800	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:53278800-53281800	Weak transcription	Esophagus	oesophagus
49	chr3:53278800-53281800	Weak transcription	Gastric	stomach
50	chr3:53278800-53281800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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