Variant report

Variant	rs73519470
Chromosome Location	chr9:96716644-96716645
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	SUZ12	chr9:96709708-96717433	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr9:96716515-96716984	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:96716169-96718368	Hela-S3	cervix:	n/a	n/a
4	MAX	chr9:96716327-96717225	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:96715218-96716678	H1-neurons	neurons:	n/a	n/a
6	E2F6	chr9:96716184-96717258	H1-hESC	embryonic stem cell:	n/a	chr9:96717156-96717171 chr9:96716525-96716533 chr9:96716525-96716533 chr9:96716808-96716818 chr9:96717160-96717172 chr9:96716526-96716533 chr9:96716848-96716858 chr9:96716519-96716529 chr9:96716524-96716534
7	MAX	chr9:96716412-96717217	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr9:96710652-96717425	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr9:96716565-96716690	H1-hESC	embryonic stem cell:	n/a	n/a
10	GABPA	chr9:96716584-96717152	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96709646..96715968-chr9:96715980..96721050,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235601	TF binding region
BARX1	TF binding region
ENSG00000131668	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56793884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57483569	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58433601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60329608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518275	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73519477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893589	chr9:96624645-96884544	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv824993	chr9:96699362-96725105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893590	chr9:96701287-96729129	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3442102	chr9:96716156-96718704	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96713000-96717000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
2	chr9:96713800-96716800	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr9:96713800-96716800	Bivalent Enhancer	Brain Substantia Nigra	brain
4	chr9:96713800-96717000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr9:96713800-96717200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:96713800-96717400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr9:96713800-96717800	Bivalent Enhancer	Liver	Liver
8	chr9:96713800-96718400	Bivalent Enhancer	Lung	lung
9	chr9:96714200-96717200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr9:96714200-96717400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr9:96714200-96717800	Enhancers	Pancreas	Pancrea
12	chr9:96714400-96717000	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr9:96714400-96717200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr9:96714600-96716800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:96714600-96716800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
16	chr9:96714600-96717000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr9:96714600-96717000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:96714600-96717000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:96714800-96716800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr9:96715000-96717000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
21	chr9:96715000-96718800	Bivalent Enhancer	Spleen	Spleen
22	chr9:96715400-96716800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr9:96715400-96717200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr9:96715800-96717000	Bivalent Enhancer	Brain Hippocampus Middle	brain
25	chr9:96715800-96717000	Weak transcription	Right Atrium	heart
26	chr9:96715800-96717200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:96715800-96717200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:96716000-96717000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:96716000-96717000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
30	chr9:96716000-96717200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr9:96716000-96717400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr9:96716200-96718200	Active TSS	Osteobl	bone
33	chr9:96716400-96716800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
34	chr9:96716400-96716800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:96716400-96716800	Bivalent Enhancer	Fetal Brain Female	brain
36	chr9:96716400-96717000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr9:96716400-96717000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr9:96716400-96717000	Bivalent Enhancer	Placenta	Placenta
39	chr9:96716400-96717200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr9:96716400-96717200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
41	chr9:96716400-96717800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr9:96716400-96718400	Active TSS	Hela-S3	cervix
43	chr9:96716400-96718600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr9:96716400-96718600	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr9:96716400-96718800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr9:96716600-96716800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr9:96716600-96716800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:96716600-96716800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:96716600-96716800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:96716600-96716800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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