Variant report

Variant	rs34079254
Chromosome Location	chr9:136996637-136996638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr9:136995913-136996650	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr9:136996089-136996706	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr9:136995981-136996744	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr9:136996001-136996712	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr9:136995897-136996780	H1-hESC	embryonic stem cell:	n/a	n/a
6	NR3C1	chr9:136996169-136996724	ECC-1	luminal epithelium:	n/a	chr9:136996428-136996441
7	ELF1	chr9:136996243-136996829	MCF-7	breast:	n/a	n/a
8	TEAD4	chr9:136996083-136996650	MCF-7	breast:	n/a	n/a
9	MAX	chr9:136996042-136996771	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr9:136995899-136996732	ECC-1	luminal epithelium:	n/a	n/a
11	MAZ	chr9:136996064-136996641	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr9:136996065-136997092	Hela-S3	cervix:	n/a	n/a
13	MAX	chr9:136995939-136996727	MCF-7	breast:	n/a	n/a
14	NFIC	chr9:136996009-136996708	ECC-1	luminal epithelium:	n/a	n/a
15	CHD2	chr9:136996007-136996659	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZKSCAN1	chr9:136995788-136996687	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr9:136995963-136996722	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr9:136996031-136996760	MCF-7	breast:	n/a	chr9:136996392-136996406
19	MXI1	chr9:136995907-136996690	Hela-S3	cervix:	n/a	n/a
20	ZBTB7A	chr9:136995927-136996870	ECC-1	luminal epithelium:	n/a	n/a
21	ELF1	chr9:136996188-136996901	MCF-7	breast:	n/a	n/a
22	TCF12	chr9:136995947-136996833	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr9:136995854-136996674	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr9:136996554-136996718	MCF-7	breast:	n/a	n/a
25	ESR1	chr9:136996166-136996648	T-47D	breast:	n/a	chr9:136996451-136996468
26	NR3C1	chr9:136996227-136996739	ECC-1	luminal epithelium:	n/a	chr9:136996428-136996441
27	POLR2A	chr9:136996101-136996837	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:136737938..136739664-chr9:136994862..136997731,2	MCF-7	breast:
2	chr9:136996126..136998065-chr9:137029177..137031559,2	MCF-7	breast:
3	chr9:136992413..136997235-chr9:136998349..137003411,7	K562	blood:

No data

Variant related genes	Relation type
WDR5	TF binding region
ENSG00000221676	Chromatin interaction
ENSG00000273249	Chromatin interaction
ENSG00000196363	Chromatin interaction

Extended variants
information (count: 51 )
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]
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]
rs34646496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34861636	1.00[AFR][1000 genomes];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[AFR][1000 genomes];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:8 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136991000-136999400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:136994400-136999400	Weak transcription	Primary B cells from cord blood	blood
3	chr9:136994600-136999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:136994600-136999400	Weak transcription	Spleen	Spleen
5	chr9:136994600-136999800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:136995000-136996800	Enhancers	NHEK	skin
7	chr9:136995800-136996800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:136995800-136996800	Flanking Active TSS	HepG2	liver
9	chr9:136996000-136996800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:136996000-136996800	Enhancers	Fetal Heart	heart
11	chr9:136996000-136996800	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:136996000-136996800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr9:136996000-136996800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr9:136996000-136996800	Flanking Active TSS	Hela-S3	cervix
15	chr9:136996000-136996800	Enhancers	HMEC	breast
16	chr9:136996000-136996800	Flanking Active TSS	HSMM	muscle
17	chr9:136996000-136996800	Flanking Active TSS	HSMMtube	muscle
18	chr9:136996000-136997000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr9:136996000-136997000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:136996000-136997000	Enhancers	Ovary	ovary
21	chr9:136996000-136997000	Enhancers	Right Ventricle	heart
22	chr9:136996000-136997000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr9:136996000-136997200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:136996000-136997200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:136996000-136997400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:136996000-136997400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:136996000-136997400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:136996000-136997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:136996000-136997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:136996000-136997800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr9:136996000-136998000	Enhancers	Pancreas	Pancrea
32	chr9:136996200-136996800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:136996200-136996800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:136996200-136996800	Enhancers	Esophagus	oesophagus
35	chr9:136996200-136996800	Enhancers	Left Ventricle	heart
36	chr9:136996200-136997000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:136996200-136997000	Enhancers	Psoas Muscle	Psoas
38	chr9:136996200-136997200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:136996200-136997200	Enhancers	Gastric	stomach
40	chr9:136996200-136997800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:136996400-136997000	Enhancers	Liver	Liver
42	chr9:136996400-136997000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr9:136996400-136997200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:136996400-136997800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:136996400-136997800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:136996400-136998200	Enhancers	Adipose Nuclei	Adipose
47	chr9:136996400-136999400	Weak transcription	Brain Angular Gyrus	brain
48	chr9:136996400-136999600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:136996400-136999600	Weak transcription	Colon Smooth Muscle	Colon
50	chr9:136996400-136999600	Weak transcription	Rectal Mucosa Donor 29	rectum

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