Variant report

Variant	rs58180720
Chromosome Location	chr9:136569970-136569971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:136569843-136570059	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136569675..136574254-chr9:136574982..136578726,4	K562	blood:
2	chr9:136566081..136568880-chr9:136569767..136571624,2	MCF-7	breast:

Variant related genes	Relation type
SARDH	TF binding region
ENSG00000123453	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3024257	1.00[EUR][1000 genomes]
rs3025392	1.00[EUR][1000 genomes]
rs3025393	1.00[EUR][1000 genomes]
rs5324	1.00[EUR][1000 genomes]
rs58165558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136560800-136576400	Weak transcription	HepG2	liver
2	chr9:136564800-136575800	Strong transcription	Liver	Liver
3	chr9:136565600-136570000	Enhancers	Fetal Brain Male	brain
4	chr9:136566800-136578200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:136567800-136571800	Weak transcription	HSMMtube	muscle
6	chr9:136568200-136570200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr9:136568200-136572000	Weak transcription	Ovary	ovary
8	chr9:136568200-136576000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:136568200-136576000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:136568200-136577000	Weak transcription	Right Atrium	heart
11	chr9:136568200-136578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:136568400-136571400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:136568400-136571800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:136568400-136575600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:136568400-136577400	Weak transcription	Lung	lung
16	chr9:136568600-136570000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr9:136568600-136570000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr9:136568600-136571400	Weak transcription	Osteobl	bone
19	chr9:136568600-136572000	Weak transcription	NH-A	brain
20	chr9:136568600-136574200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:136568600-136574800	Weak transcription	HSMM	muscle
22	chr9:136568800-136571400	ZNF genes & repeats	Fetal Thymus	thymus
23	chr9:136568800-136574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:136568800-136574200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:136569200-136570000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr9:136569200-136570200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:136569200-136571600	Weak transcription	Fetal Lung	lung
28	chr9:136569200-136572200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr9:136569200-136572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:136569200-136574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:136569200-136580800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:136569400-136570400	ZNF genes & repeats	Thymus	Thymus
33	chr9:136569400-136571800	Weak transcription	Primary B cells from cord blood	blood
34	chr9:136569400-136572200	Weak transcription	Fetal Brain Female	brain
35	chr9:136569400-136572400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr9:136569400-136574000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr9:136569600-136570400	Strong transcription	Pancreas	Pancrea
38	chr9:136569600-136572000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr9:136569600-136572800	Weak transcription	Brain Germinal Matrix	brain
40	chr9:136569600-136573800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr9:136569600-136574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:136569600-136574000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:136569600-136574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr9:136569600-136578600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:136569800-136570000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:136569800-136570000	Active TSS	Spleen	Spleen
47	chr9:136569800-136570200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:136569800-136571400	Weak transcription	Primary T cells from cord blood	blood
49	chr9:136569800-136571600	Weak transcription	Brain Inferior Temporal Lobe	brain

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