Variant report

Variant	rs9314979
Chromosome Location	chr13:30375825-30375826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11618361	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17502901	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs278042	0.90[CHB][hapmap]
rs2892463	0.95[CHB][hapmap]
rs3783244	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4769022	0.84[AMR][1000 genomes]
rs4769777	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs720083	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	0.95[CHB][hapmap]
rs9578138	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9579483	0.93[AFR][1000 genomes]
rs9579486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[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	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:30363800-30385000	Weak transcription	Left Ventricle	heart
3	chr13:30365800-30383200	Weak transcription	Ovary	ovary
4	chr13:30366200-30381400	Weak transcription	Stomach Mucosa	stomach
5	chr13:30371000-30376000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr13:30372800-30378000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:30372800-30378000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:30373000-30377800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:30373200-30376600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr13:30373200-30377600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:30373400-30383200	Weak transcription	Small Intestine	intestine
12	chr13:30373600-30376000	Weak transcription	Fetal Thymus	thymus
13	chr13:30374000-30380200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:30374200-30376400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:30374200-30377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:30374200-30380800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:30374200-30383200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr13:30374400-30376000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:30374400-30376600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:30374400-30377200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:30374800-30376000	Weak transcription	Primary B cells from cord blood	blood
22	chr13:30374800-30376200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr13:30374800-30376400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:30374800-30376600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr13:30374800-30376600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:30374800-30376600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr13:30375000-30376200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:30375000-30376400	Enhancers	Spleen	Spleen
29	chr13:30375000-30376600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:30375000-30376600	Enhancers	Psoas Muscle	Psoas
31	chr13:30375200-30376000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr13:30375200-30376000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:30375200-30376000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr13:30375200-30376400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr13:30375200-30376400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr13:30375200-30376400	Enhancers	Gastric	stomach
37	chr13:30375200-30376400	Enhancers	Pancreas	Pancrea
38	chr13:30375200-30376600	Enhancers	Brain Substantia Nigra	brain
39	chr13:30375200-30376800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:30375200-30377200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr13:30375200-30377400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr13:30375200-30377600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr13:30375400-30376200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr13:30375400-30376200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr13:30375400-30376200	Enhancers	Brain Hippocampus Middle	brain
46	chr13:30375400-30376200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:30375400-30376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:30375400-30376400	Enhancers	Brain Anterior Caudate	brain
49	chr13:30375400-30376600	Enhancers	Lung	lung
50	chr13:30375400-30376800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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