Variant report

Variant	rs10113974
Chromosome Location	chr9:136602279-136602280
allele	A/C
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	chr9:136602233-136605976	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136600827..136603339-chr9:136606377..136608244,2	K562	blood:
2	chr9:136600362..136604558-chr9:136857405..136860234,5	MCF-7	breast:

Variant related genes	Relation type
SARDH	TF binding region
ENSG00000160293	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10121093	1.00[AMR][1000 genomes]
rs10124430	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10993773	1.00[AMR][1000 genomes]
rs12001657	1.00[AMR][1000 genomes]
rs12350635	1.00[AMR][1000 genomes]
rs129958	1.00[AMR][1000 genomes]
rs129959	1.00[AMR][1000 genomes]
rs35684137	1.00[AMR][1000 genomes]
rs7852702	1.00[AMR][1000 genomes]
rs7871679	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	nsv894116	chr9:136572021-136608669	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv894117	chr9:136600201-136716399	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:136581400-136602600	Weak transcription	Fetal Lung	lung
2	chr9:136599000-136602600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:136600200-136603000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:136600400-136602400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:136600800-136602400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:136600800-136602400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:136600800-136602600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:136600800-136602600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:136600800-136602600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:136600800-136602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:136600800-136602800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:136600800-136602800	Weak transcription	Spleen	Spleen
13	chr9:136600800-136603000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:136600800-136603000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:136600800-136603400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:136601000-136603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:136601000-136603200	Weak transcription	Primary B cells from cord blood	blood
18	chr9:136601400-136602400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:136601400-136602800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:136601400-136602800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:136601800-136602600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:136601800-136602800	Enhancers	Fetal Muscle Leg	muscle
23	chr9:136602000-136602600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr9:136602000-136602600	Flanking Active TSS	Pancreas	Pancrea
25	chr9:136602000-136602800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr9:136602000-136602800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr9:136602000-136603000	Enhancers	Fetal Thymus	thymus
28	chr9:136602000-136603000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr9:136602000-136603600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr9:136602000-136604200	Enhancers	Lung	lung
31	chr9:136602000-136605000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:136602200-136602400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:136602200-136602400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:136602200-136602400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
35	chr9:136602200-136602400	Enhancers	Right Atrium	heart
36	chr9:136602200-136602400	Enhancers	HSMMtube	muscle
37	chr9:136602200-136602600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:136602200-136602600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:136602200-136602800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:136602200-136602800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:136602200-136602800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr9:136602200-136602800	Bivalent Enhancer	Fetal Stomach	stomach
43	chr9:136602200-136602800	Enhancers	Ovary	ovary
44	chr9:136602200-136602800	Enhancers	Osteobl	bone
45	chr9:136602200-136603000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:136602200-136603000	Enhancers	Colonic Mucosa	Colon
47	chr9:136602200-136603000	Enhancers	Gastric	stomach
48	chr9:136602200-136603000	Flanking Active TSS	HepG2	liver
49	chr9:136602200-136603000	Enhancers	HMEC	breast
50	chr9:136602200-136603200	Flanking Active TSS	Liver	Liver

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