Variant report

Variant	rs545680144
Chromosome Location	chr9:136567402-136567403
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136566342..136568091-chr9:136574335..136575910,2	K562	blood:
2	chr9:136558023..136560608-chr9:136564719..136567845,3	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv8576	chr9:136566631-136579273	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136545600-136567600	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:136550200-136567600	Weak transcription	Right Atrium	heart
3	chr9:136552200-136567600	Weak transcription	Fetal Kidney	kidney
4	chr9:136559600-136567800	Weak transcription	Ovary	ovary
5	chr9:136560800-136576400	Weak transcription	HepG2	liver
6	chr9:136564800-136575800	Strong transcription	Liver	Liver
7	chr9:136565000-136567800	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:136565000-136568000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:136565200-136567600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr9:136565400-136568600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr9:136565400-136568600	Flanking Active TSS	Fetal Thymus	thymus
12	chr9:136565600-136568600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr9:136565600-136568600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:136565600-136568600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr9:136565600-136568600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr9:136565600-136570000	Enhancers	Fetal Brain Male	brain
17	chr9:136565800-136567600	Enhancers	Brain Anterior Caudate	brain
18	chr9:136565800-136567600	Enhancers	Fetal Lung	lung
19	chr9:136565800-136568600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr9:136565800-136568800	Flanking Active TSS	Thymus	Thymus
21	chr9:136566000-136567600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:136566000-136567800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:136566000-136567800	Enhancers	HSMMtube	muscle
24	chr9:136566000-136568200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:136566000-136568400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:136566000-136568400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr9:136566000-136568400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr9:136566000-136568400	Enhancers	Lung	lung
29	chr9:136566200-136567600	Enhancers	Brain Hippocampus Middle	brain
30	chr9:136566200-136567600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr9:136566200-136567600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr9:136566200-136568000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr9:136566200-136568600	Enhancers	NH-A	brain
34	chr9:136566200-136569400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:136566400-136567600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:136566400-136567600	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr9:136566400-136567600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr9:136566400-136568400	Bivalent Enhancer	Placenta	Placenta
39	chr9:136566400-136568600	Enhancers	Esophagus	oesophagus
40	chr9:136566600-136567600	Enhancers	Brain Substantia Nigra	brain
41	chr9:136566600-136568400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr9:136566600-136568600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr9:136566600-136569000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:136566800-136567600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:136566800-136568000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr9:136566800-136568200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr9:136566800-136568200	Flanking Active TSS	Dnd41	blood
48	chr9:136566800-136568400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr9:136566800-136568600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr9:136566800-136568600	Enhancers	Spleen	Spleen

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