Variant report

Variant	rs328016
Chromosome Location	chr9:108035843-108035844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108031080..108034047-chr9:108034586..108036171,2	K562	blood:
2	chr9:108031908..108033818-chr9:108035186..108036701,2	MCF-7	breast:
3	chr9:108005360..108008304-chr9:108034590..108036365,2	MCF-7	breast:
4	chr9:108034840..108036346-chr9:108041989..108044497,2	MCF-7	breast:
5	chr9:108024809..108030231-chr9:108032274..108037301,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10991609	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12378850	1.00[ASW][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs327989	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs328009	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388909	1.00[YRI][hapmap]
rs391232	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]
rs451915	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108009000-108037200	Weak transcription	Aorta	Aorta
2	chr9:108017200-108040800	Weak transcription	HMEC	breast
3	chr9:108020800-108040000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:108021400-108039200	Weak transcription	Pancreas	Pancrea
5	chr9:108021400-108042600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:108021600-108043200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:108022400-108053600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:108022800-108041000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:108022800-108042400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:108022800-108046000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:108023000-108043200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:108023600-108045200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:108025200-108042400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:108027000-108039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:108027200-108051000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr9:108028400-108036000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:108028400-108053000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:108030000-108045200	Enhancers	Brain Hippocampus Middle	brain
19	chr9:108031200-108045200	Weak transcription	Liver	Liver
20	chr9:108032000-108040400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:108032200-108044200	Weak transcription	Small Intestine	intestine
22	chr9:108032400-108040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:108032400-108043800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:108032800-108040800	Weak transcription	Psoas Muscle	Psoas
25	chr9:108033200-108038000	Weak transcription	Fetal Thymus	thymus
26	chr9:108033200-108056200	Weak transcription	Primary T cells from cord blood	blood
27	chr9:108033400-108036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:108033400-108042000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:108033400-108048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:108033600-108036000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:108033600-108037600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:108033600-108039000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:108033800-108036000	Weak transcription	Fetal Brain Male	brain
34	chr9:108033800-108036200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:108033800-108037400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:108033800-108037600	Weak transcription	Colon Smooth Muscle	Colon
37	chr9:108033800-108038800	Weak transcription	Fetal Brain Female	brain
38	chr9:108033800-108044800	Weak transcription	HepG2	liver
39	chr9:108033800-108049400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:108033800-108052800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:108034000-108049800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:108034200-108036200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:108034200-108053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:108034400-108041400	Enhancers	Brain Substantia Nigra	brain
45	chr9:108034800-108036600	Weak transcription	Gastric	stomach
46	chr9:108035000-108037000	Weak transcription	Fetal Intestine Large	intestine
47	chr9:108035000-108038800	Weak transcription	Fetal Intestine Small	intestine
48	chr9:108035000-108043200	Weak transcription	Stomach Mucosa	stomach
49	chr9:108035200-108037000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:108035600-108038200	Enhancers	Brain Angular Gyrus	brain

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