Variant report

Variant	rs334064
Chromosome Location	chr2:179001515-179001516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178985318..178987568-chr2:178999084..179001889,3	K562	blood:
2	chr2:179001333..179003104-chr2:179278827..179280728,2	MCF-7	breast:
3	chr2:178998158..179000091-chr2:179001062..179003808,2	K562	blood:

Variant related genes	Relation type
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497477	1.00[CHD][hapmap]
rs12987593	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12989423	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989778	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013828	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs13033194	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402629	1.00[CHD][hapmap]
rs13410486	1.00[CHD][hapmap]
rs13419755	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17401902	1.00[CHD][hapmap]
rs334055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334071	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334073	0.89[AFR][1000 genomes]
rs334076	1.00[ASN][1000 genomes]
rs334077	1.00[ASN][1000 genomes]
rs34069002	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34927879	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620189	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35938761	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737266	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423554	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423555	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-179002200	Weak transcription	Esophagus	oesophagus
2	chr2:178978000-179003200	Weak transcription	Spleen	Spleen
3	chr2:178978000-179003800	Weak transcription	Aorta	Aorta
4	chr2:178978000-179016400	Weak transcription	Gastric	stomach
5	chr2:178978200-179002800	Weak transcription	Fetal Stomach	stomach
6	chr2:178978400-179001600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:178978400-179001800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:178978600-179001800	Weak transcription	Hela-S3	cervix
9	chr2:178978600-179003000	Weak transcription	Right Ventricle	heart
10	chr2:178978600-179003600	Weak transcription	Fetal Heart	heart
11	chr2:178978800-179004000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:178979000-179005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:178987200-179005800	Weak transcription	Psoas Muscle	Psoas
14	chr2:178987400-179002800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:178987800-179017000	Weak transcription	Fetal Lung	lung
16	chr2:178988400-179001800	Weak transcription	NHDF-Ad	bronchial
17	chr2:178988400-179002000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:178988600-179002800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:178989600-179001600	Weak transcription	Ovary	ovary
20	chr2:178990200-179007000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:178990400-179003000	Weak transcription	HMEC	breast
22	chr2:178990600-179001800	Weak transcription	HepG2	liver
23	chr2:178990800-179001800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:178990800-179002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:178990800-179003800	Weak transcription	GM12878-XiMat	blood
26	chr2:178991000-179009600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:178991200-179007400	Weak transcription	Osteobl	bone
28	chr2:178991800-179003600	Weak transcription	Left Ventricle	heart
29	chr2:178992200-179003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:178992400-179003200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:178992400-179007800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:178993200-179016800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:178993400-179002800	Weak transcription	Fetal Brain Female	brain
34	chr2:178994400-179001800	Weak transcription	Primary B cells from cord blood	blood
35	chr2:178994400-179003000	Weak transcription	Fetal Intestine Large	intestine
36	chr2:178994400-179003600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:178994400-179007200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:178994400-179007200	Weak transcription	HSMMtube	muscle
39	chr2:178994600-179002600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:178994600-179002600	Weak transcription	NH-A	brain
41	chr2:178994600-179004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:178994600-179004200	Weak transcription	Brain Anterior Caudate	brain
43	chr2:178994600-179005800	Weak transcription	Liver	Liver
44	chr2:178994600-179007000	Weak transcription	Fetal Kidney	kidney
45	chr2:178994800-179002000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:178995400-179003400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:178995800-179003600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:178997600-179001600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:178997800-179006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:178997800-179008200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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