Variant report

Variant	rs34646496
Chromosome Location	chr9:137002329-137002330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:136999899-137003166	HepG2	liver:	n/a	n/a
2	HCFC1	chr9:136999632-137002548	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr9:137001746-137002479	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr9:137001571-137002377	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:137001532-137002517	Hela-S3	cervix:	n/a	n/a
6	MYC	chr9:136999809-137002356	K562	blood:	n/a	n/a
7	POLR2A	chr9:136999884-137002568	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr9:137000054-137002399	A549	lung:	n/a	n/a
9	POLR2A	chr9:137001481-137002982	SK-N-MC	brain:	n/a	n/a
10	MXI1	chr9:136999865-137002450	SK-N-SH	brain:	n/a	chr9:136999911-136999920
11	POLR2A	chr9:137002133-137002478	MCF-7	breast:	n/a	n/a
12	ZKSCAN1	chr9:137002063-137002412	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:137001492-137002453	K562	blood:	n/a	n/a
14	POLR2A	chr9:137000257-137002523	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:137002213-137002423	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr9:136999923-137002462	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr9:137001674-137002409	HepG2	liver:	n/a	n/a
18	POLR2A	chr9:136999845-137002388	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr9:137000245-137002442	MCF-7	breast:	n/a	n/a
20	POLR2A	chr9:136999984-137002450	K562	blood:	n/a	n/a
21	MAZ	chr9:136999831-137002431	K562	blood:	n/a	n/a
22	MYC	chr9:136999999-137002341	K562	blood:	n/a	n/a
23	POLR2A	chr9:137000171-137002372	HEK293	kidney:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41236712..41238651-chr9:137001241..137003469,2	MCF-7	breast:
2	chr2:220091886..220094259-chr9:137000513..137003179,2	MCF-7	breast:
3	chr9:137001719..137003383-chr9:137240683..137243460,2	MCF-7	breast:
4	chr9:136930118..136934023-chr9:136998387..137002829,10	K562	blood:
5	chr9:137001564..137003951-chr9:137325246..137326831,2	MCF-7	breast:
6	chr9:136931194..136934944-chr9:136998387..137002829,6	K562	blood:
7	chr9:136999027..137003702-chr9:137026566..137032835,8	MCF-7	breast:
8	chr9:136930108..136935337-chr9:136999374..137002737,14	MCF-7	breast:
9	chr9:136999035..137002778-chr9:137027888..137031331,5	K562	blood:
10	chr9:136928987..136935981-chr9:136998799..137005312,16	MCF-7	breast:
11	chr9:136888792..136891646-chr9:137000403..137003499,3	MCF-7	breast:
12	chr9:137000635..137002837-chr9:137296498..137299052,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDR5	TF binding region
ENSG00000273249	TF binding region
ENSG00000186350	Chromatin interaction
ENSG00000235106	Chromatin interaction
ENSG00000169925	Chromatin interaction
ENSG00000198925	Chromatin interaction
ENSG00000221676	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs28360858	1.00[EUR][1000 genomes]
rs28399690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401385	1.00[EUR][1000 genomes]
rs28412245	1.00[EUR][1000 genomes]
rs28440102	1.00[EUR][1000 genomes]
rs28452481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28473171	1.00[EUR][1000 genomes]
rs28479377	1.00[EUR][1000 genomes]
rs28491791	1.00[EUR][1000 genomes]
rs28507057	1.00[EUR][1000 genomes]
rs28562957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579703	1.00[EUR][1000 genomes]
rs28620240	1.00[EUR][1000 genomes]
rs28705689	1.00[EUR][1000 genomes]
rs28708401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28710163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28712382	1.00[EUR][1000 genomes]
rs28714237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28740804	1.00[EUR][1000 genomes]
rs28758854	1.00[EUR][1000 genomes]
rs28759311	1.00[EUR][1000 genomes]
rs34079254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34194763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473303	1.00[EUR][1000 genomes]
rs34546899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34607253	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34861636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34929179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35209649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35322411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35387289	1.00[EUR][1000 genomes]
rs35419030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35448798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35487246	0.84[EUR][1000 genomes]
rs35489314	1.00[EUR][1000 genomes]
rs35504753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35511305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35709000	1.00[EUR][1000 genomes]
rs35726748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35924689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71483222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71505283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71505284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv6751	chr9:136967475-137007131	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	esv3392543	chr9:137000156-137002904	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3444727	chr9:137000331-137002454	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136999600-137002400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:136999800-137002400	Active TSS	Fetal Kidney	kidney
3	chr9:136999800-137002600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:136999800-137002600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:137000000-137002400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr9:137000200-137002400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:137000200-137002400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:137000200-137002400	Active TSS	Aorta	Aorta
9	chr9:137000200-137002600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr9:137000200-137002600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:137000200-137002800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:137000200-137003200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr9:137000400-137002600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:137000400-137002600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr9:137000400-137002800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr9:137001400-137002600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:137001400-137002600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:137001400-137002600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:137001600-137002400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:137001600-137002400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr9:137001600-137002400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr9:137001600-137002400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr9:137001600-137002400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:137001600-137002400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr9:137001600-137002400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr9:137001600-137002400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:137001600-137002400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr9:137001600-137002400	Flanking Active TSS	Placenta	Placenta
29	chr9:137001600-137002600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr9:137001600-137002600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr9:137001600-137002600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr9:137001600-137002600	Flanking Active TSS	Colonic Mucosa	Colon
33	chr9:137001600-137002600	Flanking Active TSS	Right Ventricle	heart
34	chr9:137001600-137002600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr9:137001600-137003000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:137001600-137003000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr9:137001600-137004600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr9:137001800-137002400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:137001800-137002400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr9:137001800-137002400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr9:137001800-137002400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr9:137001800-137002400	Flanking Active TSS	Fetal Brain Male	brain
43	chr9:137001800-137002400	Flanking Active TSS	Fetal Thymus	thymus
44	chr9:137001800-137002400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr9:137001800-137002600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr9:137001800-137002600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr9:137001800-137002600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr9:137001800-137002600	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr9:137001800-137002600	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr9:137001800-137002600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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