Variant report

Variant	rs786973
Chromosome Location	chr9:115450223-115450224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115447768..115450470-chr9:115455814..115458350,2	MCF-7	breast:
2	chr9:115449599..115451431-chr9:115473540..115475115,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10115711	1.00[ASN][1000 genomes]
rs10124260	1.00[ASN][1000 genomes]
rs10124979	1.00[ASN][1000 genomes]
rs10733594	1.00[ASN][1000 genomes]
rs10733598	1.00[ASN][1000 genomes]
rs10733599	1.00[ASN][1000 genomes]
rs10739370	1.00[ASN][1000 genomes]
rs10739373	1.00[ASN][1000 genomes]
rs10739374	1.00[ASN][1000 genomes]
rs10739376	1.00[ASN][1000 genomes]
rs10759590	1.00[ASN][1000 genomes]
rs10759603	1.00[ASN][1000 genomes]
rs10759604	1.00[ASN][1000 genomes]
rs1158331	1.00[ASN][1000 genomes]
rs11791531	1.00[ASN][1000 genomes]
rs1324931	1.00[ASN][1000 genomes]
rs1418409	1.00[ASN][1000 genomes]
rs1539338	1.00[ASN][1000 genomes]
rs1693411	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711746	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711747	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832890	1.00[ASN][1000 genomes]
rs1891402	1.00[ASN][1000 genomes]
rs2025544	1.00[ASN][1000 genomes]
rs2051018	1.00[ASN][1000 genomes]
rs2147643	1.00[ASN][1000 genomes]
rs2153837	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185769	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645985	1.00[ASN][1000 genomes]
rs2645994	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796025	1.00[ASN][1000 genomes]
rs2796028	1.00[ASN][1000 genomes]
rs2796031	1.00[ASN][1000 genomes]
rs2796035	1.00[ASN][1000 genomes]
rs2995805	0.81[AFR][1000 genomes]
rs4246892	1.00[ASN][1000 genomes]
rs4360356	1.00[ASN][1000 genomes]
rs4549852	1.00[ASN][1000 genomes]
rs4978507	1.00[ASN][1000 genomes]
rs4978510	1.00[ASN][1000 genomes]
rs4979154	1.00[ASN][1000 genomes]
rs4979155	1.00[ASN][1000 genomes]
rs4979157	1.00[ASN][1000 genomes]
rs4979165	1.00[ASN][1000 genomes]
rs4979183	1.00[ASN][1000 genomes]
rs4979184	1.00[ASN][1000 genomes]
rs4979186	1.00[ASN][1000 genomes]
rs55912580	1.00[ASN][1000 genomes]
rs6477959	1.00[ASN][1000 genomes]
rs700122	1.00[ASN][1000 genomes]
rs7026450	1.00[ASN][1000 genomes]
rs7030795	1.00[ASN][1000 genomes]
rs7038684	1.00[ASN][1000 genomes]
rs7040954	1.00[ASN][1000 genomes]
rs7041965	1.00[ASN][1000 genomes]
rs7047914	1.00[ASN][1000 genomes]
rs7859175	1.00[ASN][1000 genomes]
rs7869100	1.00[ASN][1000 genomes]
rs786961	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786965	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786966	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786967	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786968	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786969	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786972	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786974	0.81[EUR][1000 genomes]
rs786977	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7872628	1.00[ASN][1000 genomes]
rs787278	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787281	1.00[ASN][1000 genomes]
rs787285	1.00[ASN][1000 genomes]
rs787286	1.00[ASN][1000 genomes]
rs787287	1.00[ASN][1000 genomes]
rs787291	1.00[ASN][1000 genomes]
rs787296	1.00[ASN][1000 genomes]
rs787299	1.00[ASN][1000 genomes]
rs787302	1.00[ASN][1000 genomes]
rs787303	1.00[ASN][1000 genomes]
rs7873289	1.00[ASN][1000 genomes]
rs885387	1.00[ASN][1000 genomes]
rs947609	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv515899	chr9:115359049-115593870	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv34346	chr9:115360505-115581453	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	nsv1038999	chr9:115367078-115590950	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv2757350	chr9:115371397-115594108	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv471317	chr9:115375153-115558246	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2761275	chr9:115376461-115590962	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1035169	chr9:115378282-115573581	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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	15 gene(s)	inside rSNPs	diseases
10	nsv1049451	chr9:115378282-115585109	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers 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	15 gene(s)	inside rSNPs	diseases
11	nsv1047374	chr9:115378282-115590950	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1038306	chr9:115379305-115595695	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv540194	chr9:115379305-115595695	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1051909	chr9:115379505-115588377	Strong transcription Weak transcription Enhancers ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
15	nsv540195	chr9:115379505-115588377	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv915763	chr9:115379600-115588349	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	esv3693040	chr9:115381164-115578065	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv515121	chr9:115383227-115585827	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv1044168	chr9:115383253-115585109	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv1048327	chr9:115383253-115589646	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv1044381	chr9:115383253-115590950	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv442163	chr9:115383255-115590578	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	esv35051	chr9:115383332-115573581	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
24	esv34763	chr9:115383332-115581453	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv430090	chr9:115383445-115594445	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1041424	chr9:115389428-115590950	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv1050186	chr9:115390759-115550453	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
28	nsv1047625	chr9:115390759-115587347	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv540196	chr9:115390759-115587347	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	nsv615198	chr9:115397206-115589251	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
31	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
32	nsv1051808	chr9:115397891-115590950	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
33	esv34739	chr9:115409445-115581453	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115422200-115479800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:115440600-115452400	Weak transcription	Brain Angular Gyrus	brain
3	chr9:115441400-115452400	Weak transcription	Esophagus	oesophagus
4	chr9:115441800-115451000	Weak transcription	Aorta	Aorta
5	chr9:115441800-115452600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:115442000-115452400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:115443200-115452600	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:115443600-115451400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:115443600-115452200	Weak transcription	HepG2	liver
10	chr9:115443800-115451400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr9:115443800-115452800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:115443800-115459000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:115444000-115451800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:115444000-115452400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:115444000-115452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:115444000-115479800	Weak transcription	Small Intestine	intestine
17	chr9:115444800-115451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr9:115444800-115452800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr9:115444800-115453000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:115445000-115451200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:115445000-115452600	Weak transcription	Gastric	stomach
22	chr9:115445200-115452200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:115445200-115452400	Weak transcription	Spleen	Spleen
24	chr9:115445200-115479200	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:115445400-115451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:115445400-115451600	Weak transcription	Ovary	ovary
27	chr9:115445400-115452200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:115445400-115452200	Weak transcription	HMEC	breast
29	chr9:115445400-115452600	Weak transcription	Brain Substantia Nigra	brain
30	chr9:115445400-115452600	Weak transcription	NHEK	skin
31	chr9:115445600-115451400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:115445600-115476600	Weak transcription	Fetal Brain Male	brain
33	chr9:115445800-115451400	Strong transcription	Fetal Muscle Leg	muscle
34	chr9:115445800-115460400	Strong transcription	Primary T cells from cord blood	blood
35	chr9:115446000-115453000	Weak transcription	Hela-S3	cervix
36	chr9:115446400-115479400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr9:115446600-115451400	Weak transcription	Lung	lung
38	chr9:115446600-115451800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:115446600-115452800	Weak transcription	Right Ventricle	heart
40	chr9:115446600-115462400	Weak transcription	Fetal Heart	heart
41	chr9:115446600-115479400	Weak transcription	Psoas Muscle	Psoas
42	chr9:115446800-115456000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr9:115447000-115454600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr9:115447000-115456000	Strong transcription	Adipose Nuclei	Adipose
45	chr9:115447000-115457000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:115447000-115464400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:115447200-115455800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr9:115447200-115456600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:115447200-115457200	Strong transcription	Primary B cells from cord blood	blood
50	chr9:115447200-115460000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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