Variant report

Variant	rs4979633
Chromosome Location	chr9:136571886-136571887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr9:136571645-136572732	IMR90	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136569675..136574254-chr9:136574982..136578726,4	K562	blood:
2	chr9:136553976..136556938-chr9:136571128..136573086,2	MCF-7	breast:
3	chr9:136571721..136574254-chr9:136575200..136579195,4	K562	blood:
4	chr9:136401564..136404417-chr9:136570647..136572781,2	K562	blood:
5	chr9:136213643..136215369-chr9:136571224..136574187,2	MCF-7	breast:

No data

Variant related genes	Relation type
SARDH	TF binding region
ENSG00000148303	Chromatin interaction
ENSG00000148297	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2502745	0.90[JPT][hapmap]
rs4979632	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs694821	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv894115	chr9:136571089-136617292	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	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
rs4979633	SARDH	cis	Whole Blood	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

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	chr9:136566800-136578200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:136568200-136572000	Weak transcription	Ovary	ovary
5	chr9:136568200-136576000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:136568200-136576000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:136568200-136577000	Weak transcription	Right Atrium	heart
8	chr9:136568200-136578400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:136568400-136575600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:136568400-136577400	Weak transcription	Lung	lung
11	chr9:136568600-136572000	Weak transcription	NH-A	brain
12	chr9:136568600-136574200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:136568600-136574800	Weak transcription	HSMM	muscle
14	chr9:136568800-136574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:136568800-136574200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:136569200-136572200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:136569200-136572400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:136569200-136574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:136569200-136580800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:136569400-136572200	Weak transcription	Fetal Brain Female	brain
21	chr9:136569400-136572400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:136569400-136574000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:136569600-136572000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr9:136569600-136572800	Weak transcription	Brain Germinal Matrix	brain
25	chr9:136569600-136573800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr9:136569600-136574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr9:136569600-136574000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr9:136569600-136574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr9:136569600-136578600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:136570000-136572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:136570000-136572000	Weak transcription	Fetal Brain Male	brain
32	chr9:136570000-136572400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:136570000-136580200	Weak transcription	Spleen	Spleen
34	chr9:136570200-136572400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:136570400-136578800	Weak transcription	Pancreas	Pancrea
36	chr9:136570800-136575800	Enhancers	Thymus	Thymus
37	chr9:136571400-136573200	Enhancers	NHDF-Ad	bronchial
38	chr9:136571400-136574800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr9:136571400-136581400	Enhancers	Fetal Thymus	thymus
40	chr9:136571600-136572000	Weak transcription	Brain Anterior Caudate	brain
41	chr9:136571600-136573000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:136571600-136573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:136571600-136573400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr9:136571600-136573400	Enhancers	Fetal Lung	lung
45	chr9:136571600-136573400	Enhancers	NHLF	lung
46	chr9:136571600-136574000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:136571600-136574000	Bivalent Enhancer	Placenta	Placenta
48	chr9:136571600-136577200	Enhancers	Fetal Muscle Leg	muscle
49	chr9:136571800-136572000	Enhancers	Osteobl	bone
50	chr9:136571800-136572600	Enhancers	HSMMtube	muscle

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