Variant report

Variant	rs453703
Chromosome Location	chr9:136848026-136848027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136824147..136826582-chr9:136846037..136848091,2	MCF-7	breast:
2	chr9:136683788..136685445-chr9:136846019..136848764,2	MCF-7	breast:
3	chr9:136840954..136843930-chr9:136846251..136850265,3	K562	blood:
4	chr9:123868745..123871334-chr9:136846046..136848204,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs370641	0.86[ASN][1000 genomes]
rs370869	0.97[ASN][1000 genomes]
rs375871	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379485	0.95[ASN][1000 genomes]
rs379996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs414848	0.95[ASN][1000 genomes]
rs416060	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419240	0.95[ASN][1000 genomes]
rs421510	0.91[ASN][1000 genomes]
rs421771	0.87[ASN][1000 genomes]
rs422999	0.88[ASN][1000 genomes]
rs425850	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs431791	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs435586	0.95[ASN][1000 genomes]
rs435943	0.95[ASN][1000 genomes]
rs610173	0.91[ASN][1000 genomes]
rs611072	0.86[ASN][1000 genomes]
rs625083	0.81[ASN][1000 genomes]
rs625958	0.81[ASN][1000 genomes]

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	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
7	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
8	nsv894131	chr9:136792765-136906752	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv831749	chr9:136809200-136915764	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
12	nsv615743	chr9:136835343-136874158	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv894133	chr9:136839840-136887757	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv894134	chr9:136839840-136892523	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv894135	chr9:136839840-136927657	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
16	nsv894136	chr9:136839840-136938961	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv894137	chr9:136839840-136950691	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
18	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
19	esv1819984	chr9:136842109-136858528	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	esv1822910	chr9:136842109-136858528	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	esv1824837	chr9:136842109-136858528	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv615744	chr9:136843974-136865879	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv615745	chr9:136844973-136876021	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136835200-136848600	Enhancers	Fetal Intestine Large	intestine
2	chr9:136835400-136848800	Genic enhancers	Fetal Intestine Small	intestine
3	chr9:136835800-136854800	Weak transcription	A549	lung
4	chr9:136837400-136851400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:136837400-136854800	Weak transcription	HMEC	breast
6	chr9:136837800-136850600	Weak transcription	NHEK	skin
7	chr9:136838000-136854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:136840000-136854800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:136840400-136854800	Weak transcription	Hela-S3	cervix
10	chr9:136840800-136852600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:136842000-136848800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:136842600-136848600	Enhancers	Fetal Muscle Leg	muscle
13	chr9:136843000-136848400	Enhancers	Fetal Brain Male	brain
14	chr9:136843200-136848600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:136843800-136848800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:136844000-136848600	Enhancers	Primary B cells from cord blood	blood
17	chr9:136844200-136855800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr9:136844200-136856000	Weak transcription	Small Intestine	intestine
19	chr9:136844600-136848600	Enhancers	Fetal Muscle Trunk	muscle
20	chr9:136844800-136848800	Enhancers	Fetal Brain Female	brain
21	chr9:136845200-136849600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:136845200-136855000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:136845400-136848800	Enhancers	Placenta	Placenta
24	chr9:136845400-136849800	Weak transcription	Gastric	stomach
25	chr9:136845400-136855000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:136845600-136848200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:136845600-136848800	Enhancers	Pancreas	Pancrea
28	chr9:136845600-136849000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:136845600-136851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr9:136845600-136854800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr9:136845600-136855000	Weak transcription	NHDF-Ad	bronchial
32	chr9:136845800-136848200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:136845800-136854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:136845800-136855000	Weak transcription	Esophagus	oesophagus
35	chr9:136845800-136855000	Weak transcription	NHLF	lung
36	chr9:136845800-136855400	Weak transcription	Right Atrium	heart
37	chr9:136845800-136855400	Weak transcription	Osteobl	bone
38	chr9:136845800-136855600	Weak transcription	HSMMtube	muscle
39	chr9:136846000-136855800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr9:136846200-136849600	Weak transcription	GM12878-XiMat	blood
41	chr9:136846200-136854800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:136846200-136855600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:136846400-136855000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr9:136846400-136856000	Weak transcription	Fetal Kidney	kidney
45	chr9:136846600-136848400	Enhancers	Fetal Lung	lung
46	chr9:136846800-136848800	Enhancers	Fetal Stomach	stomach
47	chr9:136846800-136855400	Weak transcription	Right Ventricle	heart
48	chr9:136847000-136848200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:136847000-136848400	Enhancers	Primary B cells from peripheral blood	blood
50	chr9:136847000-136855000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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