Variant report

Variant	rs553050549
Chromosome Location	chr9:72130321-72130322
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	chr9:72126490..72129215-chr9:72129544..72132569,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv430068	chr9:72090806-72134376	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv466399	chr9:72091413-72134376	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv614569	chr9:72091413-72134376	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv893434	chr9:72091413-72134376	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv893435	chr9:72091413-72147700	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv430070	chr9:72100046-72134376	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv430071	chr9:72100046-72134427	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv34446	chr9:72100051-72134376	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv614573	chr9:72100051-72134376	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv614574	chr9:72100051-72152776	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv466413	chr9:72100051-72160174	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv614575	chr9:72100051-72160174	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv466415	chr9:72100118-72132199	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv614578	chr9:72100118-72132199	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv2757341	chr9:72100569-72134376	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv2759695	chr9:72100569-72134376	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv3423375	chr9:72130157-72132705	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72119200-72132400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:72120200-72130600	Weak transcription	Spleen	Spleen
3	chr9:72120600-72133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:72125600-72131000	Weak transcription	Fetal Brain Male	brain
5	chr9:72126200-72130800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:72127400-72131400	Weak transcription	Adipose Nuclei	Adipose
7	chr9:72127800-72131200	Weak transcription	Right Ventricle	heart
8	chr9:72128400-72130800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:72128400-72131200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:72128400-72134600	Weak transcription	Left Ventricle	heart
11	chr9:72128600-72130600	Weak transcription	Aorta	Aorta
12	chr9:72128600-72130600	Weak transcription	Brain Angular Gyrus	brain
13	chr9:72128600-72131000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:72128600-72131400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:72128600-72132200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:72128800-72130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:72128800-72130600	Enhancers	HepG2	liver
18	chr9:72128800-72130800	Weak transcription	Ovary	ovary
19	chr9:72128800-72131400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:72128800-72133200	Weak transcription	Brain Substantia Nigra	brain
21	chr9:72129000-72130400	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:72129200-72130800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:72129800-72130800	Weak transcription	Lung	lung
24	chr9:72129800-72131200	Strong transcription	Brain Germinal Matrix	brain
25	chr9:72130000-72130400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:72130000-72131000	Strong transcription	Brain Anterior Caudate	brain
27	chr9:72130000-72131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:72130000-72131200	Strong transcription	Fetal Brain Female	brain
29	chr9:72130000-72131600	Strong transcription	Liver	Liver
30	chr9:72130000-72131600	Strong transcription	Fetal Muscle Leg	muscle
31	chr9:72130000-72131800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:72130000-72132000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:72130000-72132000	Strong transcription	Pancreas	Pancrea
34	chr9:72130000-72132200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:72130000-72132600	Weak transcription	Fetal Lung	lung
36	chr9:72130000-72136600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr9:72130200-72132200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:72130200-72132600	Strong transcription	Fetal Stomach	stomach

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