Variant report

Variant	rs514309
Chromosome Location	chr9:116372579-116372580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116371231..116372845-chr9:116374624..116376242,2	MCF-7	breast:
2	chr9:116368474..116370761-chr9:116371001..116373367,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1051013	1.00[ASN][1000 genomes]
rs10817493	1.00[ASN][1000 genomes]
rs10981834	1.00[ASN][1000 genomes]
rs10981835	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs41276823	1.00[ASN][1000 genomes]
rs482318	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs561305	1.00[CHD][hapmap];0.82[GIH][hapmap]
rs591354	0.82[YRI][hapmap]
rs591426	0.82[GIH][hapmap]
rs72763857	1.00[ASN][1000 genomes]
rs899887	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116366200-116375800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:116370200-116373400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:116370200-116374000	Enhancers	HUVEC	blood vessel
4	chr9:116370600-116373000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:116371200-116372600	Enhancers	Aorta	Aorta
6	chr9:116371200-116373400	Enhancers	Liver	Liver
7	chr9:116371200-116373400	Enhancers	Right Atrium	heart
8	chr9:116371200-116373400	Enhancers	Spleen	Spleen
9	chr9:116371200-116377800	Weak transcription	Esophagus	oesophagus
10	chr9:116371200-116380200	Enhancers	Fetal Muscle Leg	muscle
11	chr9:116371400-116373200	Enhancers	Fetal Muscle Trunk	muscle
12	chr9:116371400-116373400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:116371600-116372600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:116371600-116372600	Enhancers	Fetal Stomach	stomach
15	chr9:116371600-116372600	Enhancers	NHLF	lung
16	chr9:116371600-116372800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:116371600-116372800	Enhancers	Ovary	ovary
18	chr9:116371600-116372800	Enhancers	HSMM	muscle
19	chr9:116371600-116373200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:116371600-116373200	Enhancers	Brain Hippocampus Middle	brain
21	chr9:116371600-116373200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:116371800-116372600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:116371800-116372600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:116371800-116372600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:116371800-116372600	Enhancers	Brain Anterior Caudate	brain
26	chr9:116371800-116372600	Enhancers	Brain Cingulate Gyrus	brain
27	chr9:116371800-116372600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:116371800-116372600	Enhancers	Colon Smooth Muscle	Colon
29	chr9:116371800-116372600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:116371800-116372600	Enhancers	Osteobl	bone
31	chr9:116371800-116372800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:116371800-116372800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:116371800-116372800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:116371800-116372800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:116371800-116373000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr9:116371800-116373000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:116371800-116373000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr9:116371800-116373000	Enhancers	Fetal Lung	lung
39	chr9:116371800-116373000	Enhancers	Placenta	Placenta
40	chr9:116371800-116373000	Enhancers	Stomach Mucosa	stomach
41	chr9:116371800-116373200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr9:116371800-116373200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:116371800-116373200	Enhancers	Psoas Muscle	Psoas
44	chr9:116371800-116373200	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:116371800-116373400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:116371800-116373400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:116371800-116373400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:116371800-116373400	Enhancers	Lung	lung
49	chr9:116371800-116373400	Enhancers	Right Ventricle	heart
50	chr9:116371800-116373600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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