Variant report

Variant	rs12345624
Chromosome Location	chr9:136559164-136559165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136557848..136559965-chr9:136568291..136571080,2	K562	blood:
2	chr9:136556867..136559389-chr9:136579580..136582803,3	MCF-7	breast:
3	chr9:136558023..136560608-chr9:136564719..136567845,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123453	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10993767	1.00[MEX][hapmap]
rs12345442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13288485	1.00[CEU][hapmap]
rs7024668	1.00[CEU][hapmap]
rs7027605	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv870051	chr9:136459745-136656889	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv894106	chr9:136489539-136566959	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv894107	chr9:136494566-136579589	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
7	nsv894108	chr9:136507473-136617292	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv894111	chr9:136522985-136563926	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv894112	chr9:136528721-136571089	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1049434	chr9:136529766-136618314	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1793889	chr9:136533509-136581419	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1049281	chr9:136535471-136617805	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription 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	7 gene(s)	inside rSNPs	diseases
13	nsv894113	chr9:136538798-136586367	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv428546	chr9:136541745-136720872	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv466620	chr9:136550817-136571089	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv615689	chr9:136550817-136571089	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv469907	chr9:136552263-136600201	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136530800-136561000	Weak transcription	Gastric	stomach
2	chr9:136545400-136559600	Weak transcription	Fetal Heart	heart
3	chr9:136545600-136567600	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:136549600-136566800	Weak transcription	Spleen	Spleen
5	chr9:136550000-136559200	Weak transcription	Thymus	Thymus
6	chr9:136550000-136564800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:136550000-136566200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:136550200-136565800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr9:136550200-136567600	Weak transcription	Right Atrium	heart
10	chr9:136550600-136562800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr9:136550800-136563400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr9:136551400-136562200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr9:136552200-136566000	Weak transcription	Lung	lung
14	chr9:136552200-136567600	Weak transcription	Fetal Kidney	kidney
15	chr9:136552400-136561600	Strong transcription	Primary T cells from cord blood	blood
16	chr9:136553600-136561600	Strong transcription	Fetal Stomach	stomach
17	chr9:136553600-136562600	Strong transcription	Liver	Liver
18	chr9:136554200-136560400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:136554800-136561200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:136556000-136562000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr9:136556800-136559200	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:136557200-136559400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr9:136557200-136566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:136557400-136561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:136557400-136565000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:136557400-136566000	Weak transcription	HSMMtube	muscle
27	chr9:136557600-136559200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:136557600-136565800	Weak transcription	HSMM	muscle
29	chr9:136557800-136559600	Strong transcription	Ovary	ovary
30	chr9:136557800-136566200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:136558200-136559400	Weak transcription	Fetal Brain Male	brain
32	chr9:136558200-136560200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr9:136558400-136559400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:136558400-136560200	Strong transcription	Fetal Intestine Small	intestine
35	chr9:136558400-136560200	Strong transcription	Fetal Thymus	thymus
36	chr9:136558400-136560800	Strong transcription	HepG2	liver
37	chr9:136558600-136559200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:136558600-136559200	Strong transcription	Fetal Muscle Leg	muscle
39	chr9:136558600-136559600	Strong transcription	Fetal Intestine Large	intestine
40	chr9:136558600-136560200	Strong transcription	Fetal Lung	lung
41	chr9:136558600-136560200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr9:136558800-136559200	Weak transcription	Fetal Brain Female	brain
43	chr9:136558800-136559400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr9:136558800-136559400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr9:136558800-136560000	Enhancers	Brain Cingulate Gyrus	brain
46	chr9:136558800-136560000	Strong transcription	Pancreas	Pancrea
47	chr9:136558800-136566000	Weak transcription	Brain Germinal Matrix	brain
48	chr9:136559000-136559200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:136559000-136559200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:136559000-136559200	Enhancers	Brain Angular Gyrus	brain

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