Variant report

Variant	rs10993769
Chromosome Location	chr9:136564488-136564489
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	chr9:136562276..136565149-chr9:136581460..136583950,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10993768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502745	0.87[ASN][1000 genomes]
rs2502746	0.85[ASN][1000 genomes]
rs4744534	0.87[EUR][1000 genomes]
rs694821	0.84[ASN][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	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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10993769	SARDH	cis	Whole Blood	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136545600-136567600	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:136549600-136566800	Weak transcription	Spleen	Spleen
3	chr9:136550000-136564800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr9:136550000-136566200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:136550200-136565800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:136550200-136567600	Weak transcription	Right Atrium	heart
7	chr9:136552200-136566000	Weak transcription	Lung	lung
8	chr9:136552200-136567600	Weak transcription	Fetal Kidney	kidney
9	chr9:136557200-136566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:136557400-136565000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:136557400-136566000	Weak transcription	HSMMtube	muscle
12	chr9:136557600-136565800	Weak transcription	HSMM	muscle
13	chr9:136557800-136566200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:136558800-136566000	Weak transcription	Brain Germinal Matrix	brain
15	chr9:136559200-136566000	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:136559400-136566000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:136559600-136564600	Weak transcription	Fetal Intestine Large	intestine
18	chr9:136559600-136567800	Weak transcription	Ovary	ovary
19	chr9:136560000-136565800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:136560000-136566000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:136560000-136566000	Weak transcription	Fetal Brain Female	brain
22	chr9:136560000-136567200	Weak transcription	Pancreas	Pancrea
23	chr9:136560200-136565600	Weak transcription	Fetal Brain Male	brain
24	chr9:136560200-136565800	Weak transcription	Fetal Lung	lung
25	chr9:136560200-136566200	Weak transcription	Fetal Intestine Small	intestine
26	chr9:136560400-136566000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:136560800-136576400	Weak transcription	HepG2	liver
28	chr9:136561400-136567200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:136561600-136565000	Weak transcription	Thymus	Thymus
30	chr9:136561600-136566200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:136561600-136566200	Weak transcription	Fetal Stomach	stomach
32	chr9:136562200-136565400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr9:136562400-136565600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr9:136562600-136564800	Weak transcription	Liver	Liver
35	chr9:136562800-136565600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:136562800-136565800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr9:136563400-136565600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr9:136563400-136566600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:136563800-136565400	Enhancers	Fetal Thymus	thymus
40	chr9:136563800-136565600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr9:136564000-136564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr9:136564000-136565000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr9:136564200-136565000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:136564200-136565200	Enhancers	Primary T cells from cord blood	blood

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