Variant report

Variant	rs72741072
Chromosome Location	chr9:95861007-95861008
allele	C/T
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	MAX	chr9:95860789-95861171	K562	blood:	n/a	chr9:95861046-95861055
2	MYC	chr9:95860797-95861246	HUVEC	blood vessel:	n/a	chr9:95861046-95861055
3	TCF12	chr9:95860654-95861357	ECC-1	luminal epithelium:	n/a	chr9:95860686-95860694 chr9:95861096-95861106 chr9:95861024-95861031
4	MAX	chr9:95860763-95861241	A549	lung:	n/a	chr9:95861046-95861055
5	FOXP2	chr9:95860854-95861166	PFSK-1	brain:	n/a	n/a
6	CTCF	chr9:95861000-95861150	HCPEpiC	choroid plexus:	n/a	n/a
7	JUND	chr9:95860883-95861195	HepG2	liver:	n/a	chr9:95861027-95861038 chr9:95861044-95861056 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861044-95861055 chr9:95861029-95861037 chr9:95861045-95861054
8	ZMIZ1	chr9:95860915-95861150	K562	blood:	n/a	n/a
9	POLR2A	chr9:95860781-95861246	PANC-1	pancreas:	n/a	n/a
10	BHLHE40	chr9:95860800-95861216	K562	blood:	n/a	n/a
11	JUND	chr9:95860858-95861247	K562	blood:	n/a	chr9:95861027-95861038 chr9:95861044-95861056 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861044-95861055 chr9:95861029-95861037 chr9:95861045-95861054
12	USF1	chr9:95860792-95861193	A549	lung:	n/a	n/a
13	KAP1	chr9:95860720-95861133	U2OS	brain:	n/a	chr9:95861044-95861053
14	POLR2A	chr9:95860481-95861273	U87	brain:	n/a	n/a
15	TCF12	chr9:95860634-95861365	SK-N-SH	brain:	n/a	chr9:95860686-95860694 chr9:95861096-95861106 chr9:95861024-95861031
16	FOSL1	chr9:95860850-95861194	K562	blood:	n/a	chr9:95861044-95861055 chr9:95861027-95861038 chr9:95861044-95861056 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861029-95861037 chr9:95861045-95861054
17	MAX	chr9:95860898-95861134	K562	blood:	n/a	chr9:95861046-95861055
18	ZBTB7A	chr9:95860895-95861099	K562	blood:	n/a	n/a
19	STAT3	chr9:95860818-95861337	MCF10A-Er-Src	breast:	n/a	chr9:95861045-95861054
20	ZBTB7A	chr9:95860863-95861064	K562	blood:	n/a	n/a
21	USF1	chr9:95860905-95861192	A549	lung:	n/a	n/a
22	EP300	chr9:95860824-95861218	SK-N-SH_RA	brain:	n/a	chr9:95861015-95861031
23	FOSL2	chr9:95860700-95861381	SK-N-SH	brain:	n/a	chr9:95861043-95861054 chr9:95861044-95861056 chr9:95861028-95861039 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861029-95861037 chr9:95861045-95861054
24	JUND	chr9:95860865-95861236	HepG2	liver:	n/a	chr9:95861027-95861038 chr9:95861044-95861056 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861044-95861055 chr9:95861029-95861037 chr9:95861045-95861054
25	USF1	chr9:95860929-95861107	HepG2	liver:	n/a	n/a
26	POLR2A	chr9:95860490-95861356	U87	brain:	n/a	n/a
27	USF1	chr9:95860881-95861173	SK-N-SH_RA	brain:	n/a	n/a
28	MAX	chr9:95860692-95861239	SK-N-SH	brain:	n/a	chr9:95861046-95861055
29	GATA3	chr9:95860640-95861337	SK-N-SH	brain:	n/a	chr9:95861027-95861034 chr9:95860709-95860725 chr9:95860711-95860723 chr9:95860712-95860722 chr9:95860712-95860721
30	MYC	chr9:95860884-95861366	MCF10A-Er-Src	breast:	n/a	chr9:95861046-95861055
31	JUND	chr9:95860636-95861394	SK-N-SH	brain:	n/a	chr9:95861027-95861038 chr9:95861044-95861056 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861044-95861055 chr9:95861029-95861037 chr9:95861045-95861054
32	RCOR1	chr9:95860874-95861139	K562	blood:	n/a	n/a
33	YY1	chr9:95860810-95861162	SK-N-SH_RA	brain:	n/a	n/a
34	USF1	chr9:95860899-95861139	SK-N-SH_RA	brain:	n/a	n/a
35	MXI1	chr9:95860888-95861186	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr9:95860878-95861199	PFSK-1	brain:	n/a	n/a
37	MAFF	chr9:95860934-95861130	HepG2	liver:	n/a	n/a
38	ZKSCAN1	chr9:95860906-95861178	Hela-S3	cervix:	n/a	n/a
39	MAFK	chr9:95860849-95861161	IMR90	lung:	n/a	n/a
40	PBX3	chr9:95860662-95861320	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr9:95860670-95861282	U87	brain:	n/a	n/a
42	CREB1	chr9:95860886-95861171	A549	lung:	n/a	n/a
43	NFIC	chr9:95860698-95861360	ECC-1	luminal epithelium:	n/a	n/a
44	USF1	chr9:95860833-95861211	SK-N-SH	brain:	n/a	n/a
45	MYC	chr9:95860978-95861145	MCF-7	breast:	n/a	chr9:95861046-95861055
46	RAD21	chr9:95860837-95861221	SK-N-SH_RA	brain:	n/a	n/a
47	JUN	chr9:95860734-95861398	K562	blood:	n/a	chr9:95861044-95861056 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861029-95861037 chr9:95861045-95861054
48	USF1	chr9:95860889-95861120	A549	lung:	n/a	n/a
49	FOSL2	chr9:95860713-95861183	A549	lung:	n/a	chr9:95861043-95861054 chr9:95861044-95861056 chr9:95861028-95861039 chr9:95861045-95861055 chr9:95861027-95861039 chr9:95861029-95861037 chr9:95861045-95861054
50	REST	chr9:95860780-95861163	A549	lung:	n/a	chr9:95861122-95861135

No.	Distal block	Cell Line	Cell type
1	chr9:95855712..95863110-chr9:95867626..95874665,14	K562	blood:
2	chr9:95855662..95862507-chr9:95894736..95899302,16	MCF-7	breast:
3	chr9:95857571..95862229-chr9:96211597..96216359,5	K562	blood:
4	chr9:95810158..95812137-chr9:95860234..95862505,2	K562	blood:
5	chr9:95816364..95826268-chr9:95852309..95863275,20	MCF-7	breast:
6	chr9:95765841..95768225-chr9:95860926..95862448,2	MCF-7	breast:
7	chr9:95855064..95861522-chr9:95867449..95872462,10	MCF-7	breast:
8	chr9:95855552..95862102-chr9:95867626..95876894,17	K562	blood:
9	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223446	TF binding region
ENSG00000131669	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000165233	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11789113	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55900494	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971659	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145587	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56164749	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59780701	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72741016	1.00[ASN][1000 genomes]
rs72741078	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv893577	chr9:95812707-95872216	Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv893578	chr9:95818641-95887320	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95858800-95861200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr9:95858800-95861200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr9:95858800-95861800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr9:95859000-95861200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr9:95859000-95861200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr9:95859000-95861200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr9:95859000-95861200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr9:95859000-95861200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:95859000-95861200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr9:95859000-95861400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:95859000-95861800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr9:95859000-95862000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr9:95859000-95862800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:95859000-95862800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:95859200-95861200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:95859200-95861200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:95859200-95861200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:95859200-95861200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:95859200-95861200	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr9:95859200-95861200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr9:95859200-95861200	Flanking Active TSS	A549	lung
22	chr9:95859200-95861200	Flanking Active TSS	GM12878-XiMat	blood
23	chr9:95859200-95861800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr9:95859200-95861800	Enhancers	K562	blood
25	chr9:95859400-95862200	Enhancers	Pancreas	Pancrea
26	chr9:95859400-95862200	Enhancers	Spleen	Spleen
27	chr9:95859400-95862400	Enhancers	Primary B cells from peripheral blood	blood
28	chr9:95859400-95876200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:95859600-95861200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:95859600-95861200	Enhancers	Right Ventricle	heart
31	chr9:95859600-95861400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:95859600-95861600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:95859600-95861800	Enhancers	Liver	Liver
34	chr9:95859600-95861800	Enhancers	Lung	lung
35	chr9:95859600-95861800	Enhancers	Small Intestine	intestine
36	chr9:95859600-95862000	Enhancers	Fetal Lung	lung
37	chr9:95859600-95862200	Enhancers	Gastric	stomach
38	chr9:95859600-95862200	Enhancers	Right Atrium	heart
39	chr9:95859600-95862400	Enhancers	Placenta	Placenta
40	chr9:95859600-95862600	Enhancers	Ovary	ovary
41	chr9:95859600-95889400	Weak transcription	Fetal Kidney	kidney
42	chr9:95859800-95862000	Enhancers	Stomach Mucosa	stomach
43	chr9:95859800-95862200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr9:95859800-95862200	Enhancers	Fetal Muscle Leg	muscle
45	chr9:95859800-95862400	Enhancers	Left Ventricle	heart
46	chr9:95859800-95862600	Enhancers	Esophagus	oesophagus
47	chr9:95860000-95862800	Enhancers	Fetal Thymus	thymus
48	chr9:95860000-95863000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:95860200-95861600	Enhancers	Fetal Brain Male	brain
50	chr9:95860200-95862200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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