Variant report

Variant	rs720083
Chromosome Location	chr13:30349237-30349238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30347146..30349526-chr13:30687739..30689607,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11618361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11618461	0.85[AMR][1000 genomes]
rs17502901	0.96[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs278042	0.86[CHB][hapmap]
rs2892463	0.91[CHB][hapmap]
rs3783244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4769022	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4769777	1.00[AFR][1000 genomes]
rs9314979	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9508555	0.91[CHB][hapmap]
rs9578138	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9579483	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9579486	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30328800-30351800	Weak transcription	NH-A	brain
2	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:30333200-30353800	Weak transcription	Gastric	stomach
6	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
7	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
8	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
11	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
12	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
14	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:30337800-30359800	Weak transcription	HMEC	breast
16	chr13:30338400-30354000	Weak transcription	Colon Smooth Muscle	Colon
17	chr13:30338400-30360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:30338400-30360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:30338600-30357000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:30339000-30360200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr13:30339400-30350800	Weak transcription	Hela-S3	cervix
23	chr13:30339600-30349600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:30341400-30349600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:30341400-30352200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:30341400-30360200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:30341600-30349800	Weak transcription	Fetal Lung	lung
29	chr13:30341600-30353000	Weak transcription	Fetal Intestine Large	intestine
30	chr13:30341600-30356800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr13:30341600-30357200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr13:30341600-30360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:30341800-30350600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr13:30341800-30351000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:30341800-30353800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:30341800-30354000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:30341800-30354400	Weak transcription	Adipose Nuclei	Adipose
38	chr13:30341800-30359800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr13:30341800-30360200	Weak transcription	Left Ventricle	heart
40	chr13:30341800-30360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:30341800-30363600	Weak transcription	HSMM	muscle
42	chr13:30341800-30365000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:30342000-30349800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:30342000-30351800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:30342000-30356800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr13:30342000-30357000	Weak transcription	NHDF-Ad	bronchial
47	chr13:30342000-30359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:30342600-30350800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:30343400-30356600	Weak transcription	Liver	Liver
50	chr13:30343800-30360200	Weak transcription	Rectal Mucosa Donor 29	rectum

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