Variant report

Variant	rs28514622
Chromosome Location	chr9:137032404-137032405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:137032282-137032482	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136999027..137003702-chr9:137026566..137032835,8	MCF-7	breast:
2	chr9:137030619..137032404-chr9:137216540..137218140,2	MCF-7	breast:
3	chr9:137031243..137033448-chr9:137219820..137221511,2	MCF-7	breast:
4	chr9:137030558..137032769-chr9:137303560..137307108,5	MCF-7	breast:
5	chr9:137030267..137032802-chr9:137338931..137341494,3	MCF-7	breast:
6	chr9:137030752..137033334-chr9:137269071..137271335,2	MCF-7	breast:
7	chr9:137028423..137041755-chr9:137210581..137221866,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273473	TF binding region
RNU6ATAC	TF binding region
ENSG00000196363	Chromatin interaction
ENSG00000273249	Chromatin interaction
ENSG00000263897	Chromatin interaction
ENSG00000186350	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11556388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11556389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377003	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28490952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28586903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28654852	0.86[AFR][1000 genomes]
rs28670763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28696205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58268854	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
6	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:137030800-137032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:137030800-137035600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:137030800-137036000	Weak transcription	Fetal Kidney	kidney
4	chr9:137030800-137036200	Weak transcription	Right Atrium	heart
5	chr9:137030800-137040000	Weak transcription	Small Intestine	intestine
6	chr9:137031000-137032600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:137031000-137032600	Weak transcription	NH-A	brain
8	chr9:137031000-137034400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:137031000-137034800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:137031000-137035800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:137031000-137036000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:137031000-137036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr9:137031000-137036200	Weak transcription	NHDF-Ad	bronchial
14	chr9:137031000-137037400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:137031000-137040200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:137031200-137032600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:137031200-137032600	Weak transcription	Fetal Intestine Large	intestine
18	chr9:137031200-137032600	Weak transcription	A549	lung
19	chr9:137031200-137032600	Weak transcription	HSMMtube	muscle
20	chr9:137031200-137032600	Weak transcription	NHLF	lung
21	chr9:137031200-137032600	Weak transcription	Osteobl	bone
22	chr9:137031200-137032800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:137031200-137032800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:137031200-137033200	Weak transcription	Fetal Intestine Small	intestine
25	chr9:137031200-137033800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:137031200-137034800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:137031200-137034800	Weak transcription	Stomach Mucosa	stomach
28	chr9:137031200-137035400	Weak transcription	Ovary	ovary
29	chr9:137031200-137035800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr9:137031200-137035800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:137031200-137036000	Weak transcription	Primary B cells from cord blood	blood
32	chr9:137031200-137036000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:137031200-137036000	Weak transcription	Right Ventricle	heart
34	chr9:137031200-137036200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:137031200-137036200	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:137031200-137039800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:137031200-137040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:137031400-137032600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:137031400-137033000	Weak transcription	Thymus	Thymus
40	chr9:137031400-137033800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:137031400-137033800	Weak transcription	Liver	Liver
42	chr9:137031400-137033800	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:137031400-137034000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:137031400-137034200	Weak transcription	HepG2	liver
45	chr9:137031400-137034800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:137031400-137035800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr9:137031400-137035800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr9:137031400-137035800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr9:137031400-137036200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:137031400-137036200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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