Variant report

Variant	rs73564618
Chromosome Location	chr9:136934585-136934586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr9:136930441-136934683	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr9:136934579-136934613	H1-hESC	embryonic stem cell:	n/a	n/a
3	HCFC1	chr9:136932096-136934667	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136888457..136893834-chr9:136930854..136936517,11	MCF-7	breast:
2	chr9:136932690..136935080-chr9:137003441..137005032,2	MCF-7	breast:
3	chr9:136931194..136934944-chr9:136998387..137002829,6	K562	blood:
4	chr9:136928987..136935981-chr9:136998799..137005312,16	MCF-7	breast:
5	chr9:136889327..136891768-chr9:136933108..136935436,5	MCF-7	breast:
6	chr9:136930108..136935337-chr9:136999374..137002737,14	MCF-7	breast:
7	chr9:136888954..136894255-chr9:136931474..136935040,9	K562	blood:
8	chr9:136915515..136917919-chr9:136933111..136934762,2	K562	blood:

No data

Variant related genes	Relation type
BRD3	TF binding region
ENSG00000196363	Chromatin interaction
ENSG00000273249	Chromatin interaction
ENSG00000235106	Chromatin interaction
ENSG00000169925	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs58144017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60127643	1.00[AMR][1000 genomes]
rs61243134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61579331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61604619	1.00[AMR][1000 genomes]
rs73558766	1.00[AMR][1000 genomes]
rs73558798	1.00[AMR][1000 genomes]
rs73560511	1.00[AMR][1000 genomes]
rs73560515	1.00[AMR][1000 genomes]
rs73560524	1.00[AMR][1000 genomes]
rs73560531	1.00[AMR][1000 genomes]
rs73560535	1.00[AMR][1000 genomes]
rs73560543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564617	1.00[AMR][1000 genomes]
rs73564621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7868095	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831748	chr9:136788484-136944326	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv894132	chr9:136813341-136950691	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv428226	chr9:136825035-136994606	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv894136	chr9:136839840-136938961	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
5	nsv894137	chr9:136839840-136950691	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv894139	chr9:136863932-136950691	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv894141	chr9:136865879-136938961	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv466627	chr9:136870787-136938961	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv615774	chr9:136870787-136938961	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv894146	chr9:136874066-136938961	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv894147	chr9:136874066-136950691	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
16	nsv894149	chr9:136874158-136950691	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
17	nsv894150	chr9:136887757-136944827	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
18	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
19	nsv466629	chr9:136893867-136938961	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv615779	chr9:136893867-136938961	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
21	nsv430110	chr9:136909280-136964450	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS 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	11 gene(s)	inside rSNPs	diseases
22	nsv894152	chr9:136921015-136950691	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv466630	chr9:136925451-136991034	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv615780	chr9:136925451-136991034	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	esv3396694	chr9:136931331-136935129	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
26	esv1815661	chr9:136932396-136943067	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
27	esv1822338	chr9:136932396-136943067	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136931000-136934600	Active TSS	Right Atrium	heart
2	chr9:136931200-136934600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr9:136931600-136934600	Active TSS	Rectal Smooth Muscle	rectum
4	chr9:136931600-136934800	Active TSS	Brain Angular Gyrus	brain
5	chr9:136931800-136934600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:136932000-136934600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:136932000-136934800	Active TSS	Brain Cingulate Gyrus	brain
8	chr9:136932200-136934600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr9:136932200-136934600	Active TSS	Stomach Smooth Muscle	stomach
10	chr9:136933400-136934600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr9:136933800-136934600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr9:136933800-136934600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr9:136933800-136934600	Flanking Active TSS	GM12878-XiMat	blood
14	chr9:136933800-136934800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr9:136933800-136934800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:136934000-136934600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr9:136934000-136934600	Weak transcription	Spleen	Spleen
18	chr9:136934000-136934600	Flanking Active TSS	Dnd41	blood
19	chr9:136934200-136934600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr9:136934200-136934600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr9:136934200-136934600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr9:136934200-136934600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr9:136934200-136934600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:136934200-136934600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr9:136934200-136934600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:136934200-136934600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr9:136934200-136934600	Flanking Active TSS	Liver	Liver
28	chr9:136934200-136934600	Flanking Active TSS	Colonic Mucosa	Colon
29	chr9:136934200-136934600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr9:136934200-136934600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr9:136934200-136934600	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr9:136934200-136934600	Flanking Active TSS	K562	blood
33	chr9:136934200-136934800	Bivalent Enhancer	Fetal Thymus	thymus
34	chr9:136934200-136935000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:136934200-136935600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr9:136934400-136934600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:136934400-136934600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:136934400-136934600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr9:136934400-136934600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr9:136934400-136934600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:136934400-136934600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:136934400-136934600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:136934400-136934600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:136934400-136934600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr9:136934400-136934600	Enhancers	Primary T cells from cord blood	blood
46	chr9:136934400-136934600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr9:136934400-136934600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:136934400-136934600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr9:136934400-136934600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr9:136934400-136934600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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