Variant report

Variant	rs9314976
Chromosome Location	chr13:30338359-30338360
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	chr13:30337425..30339161-chr13:30421221..30423789,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17073936	1.00[CHD][hapmap]
rs182178	1.00[CHD][hapmap]
rs1886170	1.00[CHD][hapmap];0.94[GIH][hapmap];0.81[TSI][hapmap]
rs2234417	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2388244	1.00[CHD][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs278037	1.00[CHD][hapmap];0.94[GIH][hapmap];0.83[TSI][hapmap]
rs280920	1.00[CHB][hapmap]
rs4769774	0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57008645	0.83[ASN][1000 genomes]
rs598281	1.00[CHB][hapmap]
rs7330373	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9314970	0.83[ASN][1000 genomes]
rs9508556	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.93[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9314976	MTUS2	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30324600-30340400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:30326600-30343200	Weak transcription	Spleen	Spleen
3	chr13:30328400-30340600	Weak transcription	NHLF	lung
4	chr13:30328600-30341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:30328800-30340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:30328800-30340400	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:30328800-30340800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
9	chr13:30328800-30351800	Weak transcription	NH-A	brain
10	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:30329200-30340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:30329200-30340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:30333000-30340600	Weak transcription	Fetal Thymus	thymus
16	chr13:30333000-30340600	Weak transcription	Thymus	Thymus
17	chr13:30333200-30338400	Weak transcription	Stomach Mucosa	stomach
18	chr13:30333200-30338800	Weak transcription	HSMM	muscle
19	chr13:30333200-30340200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:30333200-30340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:30333200-30353800	Weak transcription	Gastric	stomach
22	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
23	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
24	chr13:30333400-30340400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr13:30333400-30340600	Weak transcription	Placenta	Placenta
26	chr13:30333400-30345800	Weak transcription	HepG2	liver
27	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:30333600-30340000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr13:30333600-30340400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:30333600-30340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:30334800-30340800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
34	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
35	chr13:30335600-30340600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:30335800-30340600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:30336000-30340600	Weak transcription	Left Ventricle	heart
38	chr13:30336000-30343000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr13:30336200-30339000	Enhancers	Primary T cells from cord blood	blood
40	chr13:30336200-30339000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr13:30336200-30339000	Enhancers	HSMMtube	muscle
42	chr13:30336200-30340400	Weak transcription	Liver	Liver
43	chr13:30336200-30340600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr13:30336200-30340600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:30336400-30339000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr13:30336400-30340600	Weak transcription	Fetal Lung	lung
47	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
49	chr13:30336800-30338400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:30336800-30338400	Enhancers	NHEK	skin

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