Variant report

Variant	rs71505283
Chromosome Location	chr9:137002935-137002936
allele	A/G
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	POLR2A	chr9:136999899-137003166	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:137002768-137003074	HepG2	liver:	n/a	chr9:137002931-137002942
3	CEBPB	chr9:137002870-137003043	H1-hESC	embryonic stem cell:	n/a	chr9:137002931-137002942
4	CEBPB	chr9:137002856-137003017	Hela-S3	cervix:	n/a	chr9:137002931-137002942
5	POLR2A	chr9:137001481-137002982	SK-N-MC	brain:	n/a	n/a
6	CEBPB	chr9:137002771-137003045	MCF-7	breast:	n/a	chr9:137002931-137002942
7	CEBPB	chr9:137002758-137003092	K562	blood:	n/a	chr9:137002931-137002942

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	chr9:137001564..137003951-chr9:137325246..137326831,2	MCF-7	breast:
5	chr9:136999027..137003702-chr9:137026566..137032835,8	MCF-7	breast:
6	chr9:136928987..136935981-chr9:136998799..137005312,16	MCF-7	breast:
7	chr9:136888792..136891646-chr9:137000403..137003499,3	MCF-7	breast:

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

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs28360858	1.00[EUR][1000 genomes]
rs28377785	1.00[AFR][1000 genomes]
rs28399690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401385	1.00[EUR][1000 genomes]
rs28412245	1.00[EUR][1000 genomes]
rs28421319	1.00[AFR][1000 genomes]
rs28425680	1.00[AFR][1000 genomes]
rs28436125	1.00[AFR][1000 genomes]
rs28440102	1.00[EUR][1000 genomes]
rs28452481	1.00[AFR][1000 genomes];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]
rs28562287	1.00[AFR][1000 genomes]
rs28562957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579703	1.00[EUR][1000 genomes]
rs28594106	1.00[AFR][1000 genomes]
rs28620240	1.00[EUR][1000 genomes]
rs28626085	1.00[AFR][1000 genomes]
rs28687115	1.00[AFR][1000 genomes]
rs28705689	1.00[EUR][1000 genomes]
rs28708401	1.00[AFR][1000 genomes];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]
rs34022301	1.00[AFR][1000 genomes]
rs34079254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34194763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473303	1.00[EUR][1000 genomes]
rs34546899	1.00[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34929179	1.00[AFR][1000 genomes];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]
rs35370793	1.00[AFR][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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35511305	1.00[AFR][1000 genomes];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]
rs35874066	1.00[AFR][1000 genomes]
rs35924689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35962164	1.00[AFR][1000 genomes]
rs36029182	1.00[AFR][1000 genomes]
rs71483222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71505284	1.00[AFR][1000 genomes];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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:137000200-137003200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:137001600-137003000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:137001600-137003000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr9:137001600-137004600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr9:137001800-137003000	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr9:137001800-137003200	Flanking Active TSS	Liver	Liver
7	chr9:137001800-137003800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr9:137001800-137004400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:137002000-137003000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:137002000-137003200	Flanking Active TSS	Hela-S3	cervix
11	chr9:137002000-137003400	Flanking Active TSS	Dnd41	blood
12	chr9:137002000-137004800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:137002200-137003000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:137002200-137003200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:137002200-137003400	Enhancers	Spleen	Spleen
16	chr9:137002200-137004200	Enhancers	Fetal Heart	heart
17	chr9:137002200-137004400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:137002400-137003000	Enhancers	GM12878-XiMat	blood
19	chr9:137002400-137003200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:137002400-137003200	Enhancers	HSMMtube	muscle
21	chr9:137002400-137003400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:137002400-137003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:137002400-137003400	Enhancers	Brain Anterior Caudate	brain
24	chr9:137002400-137003400	Weak transcription	Fetal Kidney	kidney
25	chr9:137002400-137003400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:137002400-137003600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:137002400-137003600	Weak transcription	Aorta	Aorta
28	chr9:137002400-137003600	Enhancers	Fetal Lung	lung
29	chr9:137002400-137003800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:137002400-137003800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr9:137002400-137003800	Enhancers	Primary B cells from peripheral blood	blood
32	chr9:137002400-137003800	Enhancers	Fetal Brain Male	brain
33	chr9:137002400-137003800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:137002400-137003800	Enhancers	Placenta	Placenta
35	chr9:137002400-137003800	Enhancers	Fetal Thymus	thymus
36	chr9:137002400-137003800	Enhancers	Stomach Mucosa	stomach
37	chr9:137002400-137003800	Flanking Active TSS	HepG2	liver
38	chr9:137002400-137004000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr9:137002400-137004200	Enhancers	Gastric	stomach
40	chr9:137002400-137004200	Enhancers	Lung	lung
41	chr9:137002400-137004400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:137002400-137004400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr9:137002400-137004400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr9:137002400-137004400	Enhancers	Small Intestine	intestine
45	chr9:137002400-137004600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:137002400-137004600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:137002400-137004600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr9:137002400-137004600	Enhancers	Esophagus	oesophagus
49	chr9:137002400-137004600	Enhancers	Ovary	ovary
50	chr9:137002400-137004600	Enhancers	Sigmoid Colon	Sigmoid Colon

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