Variant report

Variant	rs4979174
Chromosome Location	chr9:115630249-115630250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115616161..115618077-chr9:115630043..115631979,2	MCF-7	breast:
2	chr9:115630001..115632301-chr9:115634628..115637570,3	MCF-7	breast:
3	chr9:115623112..115625247-chr9:115625662..115630540,4	K562	blood:
4	chr9:115628888..115632126-chr9:115633392..115636528,4	K562	blood:
5	chr9:115588210..115591138-chr9:115628992..115630690,2	MCF-7	breast:
6	chr9:115625288..115627848-chr9:115629822..115631773,2	K562	blood:
7	chr9:115629889..115631673-chr9:115633392..115635288,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10081751	0.86[CEU][hapmap]
rs11794056	0.90[CEU][hapmap]
rs12555425	0.85[CEU][hapmap]
rs1539339	0.90[CEU][hapmap]
rs3802493	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4978508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4979149	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2757351	chr9:115600623-115632898	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115577600-115630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr9:115594200-115634400	Weak transcription	NH-A	brain
3	chr9:115601200-115641200	Weak transcription	Fetal Brain Male	brain
4	chr9:115607400-115643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:115611400-115634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:115611600-115634200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:115612000-115634600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:115613600-115642600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr9:115614000-115632600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:115615600-115631000	Weak transcription	Psoas Muscle	Psoas
11	chr9:115615600-115639200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:115615600-115646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:115616000-115631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr9:115620600-115631000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:115621200-115639400	Weak transcription	Stomach Mucosa	stomach
16	chr9:115624200-115652600	Weak transcription	Fetal Heart	heart
17	chr9:115624800-115631200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:115624800-115635200	Strong transcription	Primary T cells from cord blood	blood
19	chr9:115625600-115630600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:115625600-115633400	Weak transcription	Right Atrium	heart
21	chr9:115625800-115645200	Weak transcription	Thymus	Thymus
22	chr9:115626000-115636200	Weak transcription	NHLF	lung
23	chr9:115626400-115630400	Genic enhancers	Brain Hippocampus Middle	brain
24	chr9:115626400-115634200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr9:115626400-115635000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:115626400-115635200	Strong transcription	Fetal Stomach	stomach
27	chr9:115626400-115650800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr9:115626600-115633800	Strong transcription	Liver	Liver
29	chr9:115627000-115647000	Weak transcription	Colonic Mucosa	Colon
30	chr9:115627200-115637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:115627400-115633200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:115627600-115630600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr9:115627600-115630600	Weak transcription	Esophagus	oesophagus
34	chr9:115627600-115630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:115627600-115631000	Weak transcription	Gastric	stomach
36	chr9:115627600-115642000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:115627600-115646800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:115627800-115630400	Weak transcription	Fetal Kidney	kidney
39	chr9:115627800-115630600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:115627800-115631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:115627800-115631000	Weak transcription	Brain Germinal Matrix	brain
42	chr9:115627800-115631000	Weak transcription	Ovary	ovary
43	chr9:115627800-115631000	Weak transcription	Spleen	Spleen
44	chr9:115627800-115631400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:115627800-115631400	Weak transcription	Pancreas	Pancrea
46	chr9:115627800-115631600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr9:115627800-115640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:115628400-115631000	Genic enhancers	Brain Substantia Nigra	brain
49	chr9:115628400-115633400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr9:115628600-115630800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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