Variant report

Variant	rs10124430
Chromosome Location	chr9:136600269-136600270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:136600117-136600359	HepG2	liver:	n/a	n/a
2	EBF1	chr9:136600178-136600564	GM12878	blood:	n/a	chr9:136600390-136600401 chr9:136600390-136600400 chr9:136600391-136600400
3	EBF1	chr9:136600193-136600478	GM12878	blood:	n/a	chr9:136600390-136600401 chr9:136600390-136600400 chr9:136600391-136600400
4	CHD2	chr9:136600225-136600324	GM12878	blood:	n/a	n/a
5	EBF1	chr9:136600127-136600877	GM12878	blood:	n/a	chr9:136600390-136600401 chr9:136600390-136600400 chr9:136600391-136600400
6	MAZ	chr9:136600128-136600453	GM12878	blood:	n/a	n/a
7	GABPA	chr9:136600230-136600757	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:136600241-136600291	HAEpiC	amniotic membrane:	n/a
2	chr9:136600241-136600291	K562	blood:	n/a
3	chr9:136600241-136600291	BE2_C	brain:	n/a
4	chr9:136600241-136600291	SKMC	muscle:	n/a
5	chr9:136600241-136600291	Hepatocyte	liver:	n/a
6	chr9:136600241-136600291	NT2-D1	testis:	n/a
7	chr9:136600241-136600291	GM12892	blood:	n/a
8	chr9:136600241-136600291	AG04449	skin:	fetal
9	chr9:136600241-136600291	GM06990	blood:	n/a
10	chr9:136600241-136600291	HIPEpiC	eye:	n/a
11	chr9:136600241-136600291	HEEpiC	esophagus:	n/a
12	chr9:136600241-136600291	AG10803	skin:	n/a
13	chr9:136600241-136600291	HUVEC	blood vessel:	n/a
14	chr9:136600241-136600291	SK-N-SH_RA	brain:	n/a
15	chr9:136600241-136600291	PANC-1	pancreas:	n/a
16	chr9:136600241-136600291	HCPEpiC	choroid plexus:	n/a
17	chr9:136600241-136600291	LNCaP	prostate:	n/a
18	chr9:136600241-136600291	SK-N-MC	brain:	n/a
19	chr9:136600241-136600291	HRPEpiC	eye:	n/a
20	chr9:136600241-136600291	ProgFib	skin:	n/a
21	chr9:136600241-136600291	HRCEpiC	kidney:	n/a
22	chr9:136600241-136600291	AG09309	skin:	n/a
23	chr9:136600241-136600291	HRE	kidney:	n/a
24	chr9:136600241-136600291	HPAEpiC	pulmonary alveolar:	n/a
25	chr9:136600241-136600291	NHDF-neo	bronchial:	n/a
26	chr9:136600241-136600291	HCT-116	colon:	n/a
27	chr9:136600241-136600291	HCF	heart:	n/a
28	chr9:136600241-136600291	Caco-2	colon:	n/a
29	chr9:136600241-136600291	MCF10A-Er-Src	breast:	n/a
30	chr9:136600241-136600291	AG09319	gingival:	n/a
31	chr9:136600241-136600291	ovcar-3	ovarian:	n/a
32	chr9:136600241-136600291	HNPCEpiC	eye:	n/a
33	chr9:136600241-136600291	ECC-1	luminal epithelium:	n/a
34	chr9:136600241-136600291	RPTEC	kidney:	n/a
35	chr9:136600241-136600291	HMEC	breast:	n/a
36	chr9:136600241-136600291	NHBE	bronchial:	n/a
37	chr9:136600241-136600291	H1-hESC	embryonic stem cell:	embryo
38	chr9:136600241-136600291	SAEC	small airway:	n/a
39	chr9:136600241-136600291	AG04450	lung:	fetal
40	chr9:136600241-136600291	MCF-7	breast:	n/a
41	chr9:136600241-136600291	HCM	heart:	n/a
42	chr9:136600241-136600291	T-47D	breast:	n/a
43	chr9:136600241-136600291	HL-60	blood:	n/a
44	chr9:136600241-136600291	IMR90	lung:	fetal
45	chr9:136600241-136600291	PrEC	prostate:	n/a
46	chr9:136600241-136600291	NH-A	brain:	n/a
47	chr9:136600241-136600291	CMK	blood:	n/a
48	chr9:136600241-136600291	HepG2	liver:	n/a
49	chr9:136600241-136600291	PFSK-1	brain:	n/a
50	chr9:136600241-136600291	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136599828..136601536-chr9:136603535..136606869,3	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs10113974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10121093	0.80[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136581400-136602600	Weak transcription	Fetal Lung	lung
2	chr9:136582200-136602200	Weak transcription	Right Atrium	heart
3	chr9:136582200-136602200	Weak transcription	HSMM	muscle
4	chr9:136593800-136602200	Weak transcription	Gastric	stomach
5	chr9:136595000-136602200	Weak transcription	Ovary	ovary
6	chr9:136595400-136601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:136598600-136601400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:136598800-136601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:136599000-136602600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:136599200-136601000	Enhancers	Primary B cells from cord blood	blood
11	chr9:136599400-136601400	Enhancers	Primary B cells from peripheral blood	blood
12	chr9:136599400-136601800	Weak transcription	Pancreas	Pancrea
13	chr9:136599400-136602200	Enhancers	Liver	Liver
14	chr9:136599600-136600800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:136599600-136600800	Enhancers	Fetal Thymus	thymus
16	chr9:136599800-136600800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr9:136599800-136600800	Enhancers	Dnd41	blood
18	chr9:136599800-136600800	Enhancers	GM12878-XiMat	blood
19	chr9:136600000-136600400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:136600000-136600800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr9:136600000-136600800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:136600000-136600800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:136600000-136600800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:136600000-136601400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:136600200-136600600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr9:136600200-136600800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:136600200-136600800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:136600200-136600800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr9:136600200-136600800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr9:136600200-136600800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr9:136600200-136600800	Enhancers	Spleen	Spleen
32	chr9:136600200-136603000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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