Variant report

Variant	rs2645991
Chromosome Location	chr9:115519035-115519036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115476453..115479133-chr9:115517930..115520835,2	MCF-7	breast:
2	chr9:115511365..115514968-chr9:115517023..115521042,5	K562	blood:

Variant related genes	Relation type
ENSG00000226609	Chromatin interaction
ENSG00000148158	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10124260	0.91[EUR][1000 genomes]
rs10733594	0.91[EUR][1000 genomes]
rs10739370	0.91[EUR][1000 genomes]
rs10739373	0.86[EUR][1000 genomes]
rs10739374	0.83[EUR][1000 genomes]
rs10759584	0.88[EUR][1000 genomes]
rs1361719	0.85[EUR][1000 genomes]
rs1361720	0.83[EUR][1000 genomes]
rs1418409	0.91[EUR][1000 genomes]
rs1539338	0.89[EUR][1000 genomes]
rs1832890	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1891402	0.91[EUR][1000 genomes]
rs1891403	0.96[EUR][1000 genomes]
rs1965335	0.88[EUR][1000 genomes]
rs2153837	0.83[EUR][1000 genomes]
rs2185769	0.83[EUR][1000 genomes]
rs2645985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2645993	0.86[EUR][1000 genomes]
rs2645994	0.86[EUR][1000 genomes]
rs2796025	0.80[EUR][1000 genomes]
rs2796028	1.00[EUR][1000 genomes]
rs2796031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2796035	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2796037	0.86[EUR][1000 genomes]
rs2935476	0.88[EUR][1000 genomes]
rs4246892	0.89[EUR][1000 genomes]
rs4304397	0.82[EUR][1000 genomes]
rs4549852	0.89[EUR][1000 genomes]
rs4604521	0.91[EUR][1000 genomes]
rs4978507	0.82[EUR][1000 genomes]
rs4979148	0.88[EUR][1000 genomes]
rs4979150	0.88[EUR][1000 genomes]
rs4979153	0.88[EUR][1000 genomes]
rs4979154	0.91[EUR][1000 genomes]
rs4979155	0.86[EUR][1000 genomes]
rs4979157	0.91[EUR][1000 genomes]
rs4979165	0.82[EUR][1000 genomes]
rs6477959	0.91[EUR][1000 genomes]
rs700122	0.91[EUR][1000 genomes]
rs7030795	0.91[EUR][1000 genomes]
rs7038684	0.82[EUR][1000 genomes]
rs7041965	0.83[EUR][1000 genomes]
rs72768411	0.88[EUR][1000 genomes]
rs72768423	0.84[AMR][1000 genomes]
rs7859175	0.89[EUR][1000 genomes]
rs7862183	0.96[EUR][1000 genomes]
rs7868830	0.88[EUR][1000 genomes]
rs786961	0.86[EUR][1000 genomes]
rs786965	0.81[EUR][1000 genomes]
rs786966	0.81[EUR][1000 genomes]
rs786977	0.83[EUR][1000 genomes]
rs7872308	0.85[EUR][1000 genomes]
rs7872628	0.91[EUR][1000 genomes]
rs787271	0.88[EUR][1000 genomes]
rs787276	0.88[EUR][1000 genomes]
rs787278	0.86[EUR][1000 genomes]
rs787279	0.88[EUR][1000 genomes]
rs787280	0.88[EUR][1000 genomes]
rs787281	0.91[EUR][1000 genomes]
rs787284	0.84[EUR][1000 genomes]
rs787285	0.91[EUR][1000 genomes]
rs787286	0.91[EUR][1000 genomes]
rs787287	0.91[EUR][1000 genomes]
rs787291	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs787292	0.88[EUR][1000 genomes]
rs787295	0.88[EUR][1000 genomes]
rs787296	0.91[EUR][1000 genomes]
rs787297	0.88[EUR][1000 genomes]
rs787298	0.88[EUR][1000 genomes]
rs787299	0.91[EUR][1000 genomes]
rs787301	0.88[EUR][1000 genomes]
rs787302	0.91[EUR][1000 genomes]
rs787303	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs813101	0.88[EUR][1000 genomes]
rs885387	0.86[EUR][1000 genomes]
rs9409123	0.89[EUR][1000 genomes]
rs947609	1.00[AMR][1000 genomes];1.00[EUR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115514400-115519200	Weak transcription	K562	blood
2	chr9:115514400-115520400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr9:115514400-115520600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:115514400-115521000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:115514600-115519400	Enhancers	Fetal Intestine Large	intestine
6	chr9:115514600-115520200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:115514600-115520400	Enhancers	Colon Smooth Muscle	Colon
8	chr9:115514600-115523600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:115514600-115526400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:115514600-115526400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:115514800-115519400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr9:115514800-115520000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:115514800-115520000	Enhancers	Osteobl	bone
14	chr9:115514800-115523400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:115515000-115519200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr9:115515000-115519800	Weak transcription	Fetal Brain Male	brain
17	chr9:115515200-115536800	Weak transcription	Fetal Brain Female	brain
18	chr9:115515400-115519800	Enhancers	Brain Hippocampus Middle	brain
19	chr9:115515400-115526600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:115516400-115542200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:115516600-115519200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:115516600-115526400	Weak transcription	Aorta	Aorta
23	chr9:115517200-115528800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr9:115517400-115519800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:115517400-115520600	Enhancers	Psoas Muscle	Psoas
26	chr9:115517400-115522200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr9:115517400-115526600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:115517400-115542800	Weak transcription	HSMMtube	muscle
29	chr9:115517600-115520000	Enhancers	Duodenum Mucosa	Duodenum
30	chr9:115517800-115520000	Weak transcription	Brain Anterior Caudate	brain
31	chr9:115517800-115520200	Weak transcription	Lung	lung
32	chr9:115517800-115522200	Weak transcription	Primary B cells from cord blood	blood
33	chr9:115517800-115522400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr9:115517800-115522800	Weak transcription	GM12878-XiMat	blood
35	chr9:115517800-115524000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr9:115517800-115524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:115517800-115524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:115518000-115519400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:115518000-115520200	Enhancers	Rectal Smooth Muscle	rectum
40	chr9:115518000-115522400	Weak transcription	Primary T cells from cord blood	blood
41	chr9:115518000-115524000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:115518200-115519200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr9:115518200-115519400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr9:115518200-115519400	Weak transcription	Brain Angular Gyrus	brain
45	chr9:115518200-115519400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr9:115518200-115519400	Enhancers	Fetal Intestine Small	intestine
47	chr9:115518200-115519400	Weak transcription	Fetal Lung	lung
48	chr9:115518200-115519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:115518200-115519600	Weak transcription	Brain Substantia Nigra	brain
50	chr9:115518200-115519600	Weak transcription	Spleen	Spleen

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