Variant report

Variant	rs4979250
Chromosome Location	chr9:116274358-116274359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116268020..116270746-chr9:116274035..116276805,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10981818	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10981833	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12683088	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs16934489	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116251600-116283800	Weak transcription	Hela-S3	cervix
2	chr9:116255600-116275800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116264000-116291200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116264800-116298400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:116266800-116281600	Strong transcription	Fetal Stomach	stomach
6	chr9:116267400-116274800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:116268000-116275000	Genic enhancers	HUVEC	blood vessel
8	chr9:116268400-116277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:116268600-116278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:116269000-116288600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:116269400-116288200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:116269600-116276600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:116269600-116298400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:116269800-116276400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:116270000-116275000	Enhancers	Stomach Mucosa	stomach
17	chr9:116270400-116289200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:116270400-116290600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:116270600-116274400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:116270600-116283800	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:116270600-116283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:116270800-116276000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:116270800-116276000	Weak transcription	Fetal Brain Female	brain
24	chr9:116270800-116285200	Weak transcription	Brain Substantia Nigra	brain
25	chr9:116270800-116285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:116271000-116274400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:116271000-116285200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:116271000-116285600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:116271200-116275000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:116271200-116275000	Enhancers	Spleen	Spleen
31	chr9:116271200-116278200	Weak transcription	Adipose Nuclei	Adipose
32	chr9:116271400-116276000	Weak transcription	Gastric	stomach
33	chr9:116271400-116281200	Weak transcription	Fetal Kidney	kidney
34	chr9:116272000-116276400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr9:116272000-116278200	Weak transcription	Fetal Lung	lung
36	chr9:116272200-116274400	Weak transcription	NHLF	lung
37	chr9:116272200-116274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:116272800-116274400	Weak transcription	Thymus	Thymus
39	chr9:116272800-116274600	Enhancers	Liver	Liver
40	chr9:116273000-116275200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr9:116273200-116274400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr9:116273200-116274400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:116273200-116274400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr9:116273200-116274400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:116273200-116274400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr9:116273200-116274400	Enhancers	Psoas Muscle	Psoas
47	chr9:116273200-116274600	Enhancers	Pancreas	Pancrea
48	chr9:116273200-116275000	Enhancers	Placenta	Placenta
49	chr9:116273200-116276600	Enhancers	Fetal Thymus	thymus
50	chr9:116273200-116279400	Genic enhancers	Fetal Intestine Small	intestine

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