Variant report

Variant	rs62136391
Chromosome Location	chr2:64131114-64131115
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64110843..64112629-chr2:64128824..64132161,3	MCF-7	breast:
2	chr2:64126493..64128913-chr2:64128922..64131491,2	K562	blood:
3	chr2:64124663..64126805-chr2:64129629..64131901,2	MCF-7	breast:
4	chr2:64121804..64124503-chr2:64129282..64132356,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11899693	0.81[EUR][1000 genomes]
rs13431437	1.00[ASN][1000 genomes]
rs17028099	1.00[ASN][1000 genomes]
rs17554748	1.00[ASN][1000 genomes]
rs28838707	1.00[ASN][1000 genomes]
rs3924029	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748575	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56342040	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57120200	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57329063	1.00[ASN][1000 genomes]
rs57844293	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57877849	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58208651	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58422338	1.00[ASN][1000 genomes]
rs58472560	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58495096	1.00[ASN][1000 genomes]
rs59540641	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136361	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136362	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62136364	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136366	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136367	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136369	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62136393	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62136397	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62136398	0.84[AMR][1000 genomes]
rs62136400	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62136402	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62138760	1.00[ASN][1000 genomes]
rs62138819	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138820	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138822	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138823	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138824	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745518	1.00[ASN][1000 genomes]
rs6751397	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937260	1.00[ASN][1000 genomes]
rs73937264	1.00[ASN][1000 genomes]
rs73937268	1.00[ASN][1000 genomes]
rs7558570	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7582457	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601187	1.00[ASN][1000 genomes]
rs7606341	0.85[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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64116800-64138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:64118400-64137800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:64119200-64132800	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:64119400-64133200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:64119600-64139600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:64126000-64138000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:64126200-64138800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:64126800-64132400	Weak transcription	K562	blood
12	chr2:64127000-64132600	Weak transcription	Liver	Liver
13	chr2:64127000-64133200	Weak transcription	Placenta	Placenta
14	chr2:64127200-64138000	Weak transcription	HSMMtube	muscle
15	chr2:64127400-64138600	Weak transcription	Psoas Muscle	Psoas
16	chr2:64128200-64132200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:64128200-64134000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:64128400-64132000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64128600-64131400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:64128600-64132200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr2:64128600-64133200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr2:64129200-64131200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr2:64129200-64131200	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr2:64129200-64131200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr2:64129200-64131400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr2:64129200-64138000	Weak transcription	Left Ventricle	heart
27	chr2:64129400-64131200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr2:64129400-64131200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr2:64129400-64133800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:64129600-64131400	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr2:64129600-64133200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:64129600-64133200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:64129600-64138200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:64129600-64138200	Weak transcription	NH-A	brain
35	chr2:64129600-64139000	Weak transcription	Spleen	Spleen
36	chr2:64129600-64153200	Weak transcription	Thymus	Thymus
37	chr2:64129600-64153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:64129600-64153600	Weak transcription	Aorta	Aorta
39	chr2:64129600-64153600	Weak transcription	Pancreas	Pancrea
40	chr2:64129600-64154000	Weak transcription	Colonic Mucosa	Colon
41	chr2:64129600-64164000	Weak transcription	NHLF	lung
42	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
43	chr2:64129800-64134600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:64129800-64135200	Weak transcription	Osteobl	bone
45	chr2:64129800-64154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:64130000-64131200	Weak transcription	Fetal Thymus	thymus
47	chr2:64130000-64132200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:64130000-64133200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:64130000-64138000	Weak transcription	Lung	lung
50	chr2:64130000-64153200	Weak transcription	Gastric	stomach

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