Variant report

Variant	rs73555054
Chromosome Location	chr9:137031269-137031270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:137031074-137031338	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:137029608-137031708	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr9:137029384-137031813	SK-N-MC	brain:	n/a	n/a
4	HCFC1	chr9:137028410-137031485	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr9:137029266-137031976	Raji	blood:	n/a	n/a
6	POLR2A	chr9:137029393-137031365	HL-60	blood:	n/a	n/a
7	POLR2A	chr9:137031006-137031276	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:137030110..137032230-chr9:137037095..137040393,3	MCF-7	breast:
2	chr9:136999027..137003702-chr9:137026566..137032835,8	MCF-7	breast:
3	chr9:137030619..137032404-chr9:137216540..137218140,2	MCF-7	breast:
4	chr9:137031243..137033448-chr9:137219820..137221511,2	MCF-7	breast:
5	chr9:136999035..137002778-chr9:137027888..137031331,5	K562	blood:
6	chr9:137030558..137032769-chr9:137303560..137307108,5	MCF-7	breast:
7	chr9:137030448..137032134-chr9:137229011..137230599,2	K562	blood:
8	chr9:137029897..137032228-chr9:137170817..137173611,2	MCF-7	breast:
9	chr9:137028543..137032380-chr9:137216254..137220347,4	K562	blood:
10	chr9:137030267..137032802-chr9:137338931..137341494,3	MCF-7	breast:
11	chr9:137030752..137033334-chr9:137269071..137271335,2	MCF-7	breast:
12	chr9:137028423..137041755-chr9:137210581..137221866,35	MCF-7	breast:
13	chr9:136997943..137000936-chr9:137029556..137031957,3	K562	blood:
14	chr9:137001200..137002778-chr9:137029831..137031732,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273473	TF binding region
RNU6ATAC	TF binding region
ENSG00000196363	Chromatin interaction
ENSG00000263897	Chromatin interaction
ENSG00000273249	Chromatin interaction
ENSG00000186350	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34607253	0.86[AFR][1000 genomes]
rs73555049	0.86[AFR][1000 genomes]
rs73555051	1.00[AFR][1000 genomes]
rs73555061	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:137030200-137031400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr9:137030400-137031400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:137030400-137031400	Flanking Active TSS	GM12878-XiMat	blood
4	chr9:137030400-137031800	Flanking Active TSS	Dnd41	blood
5	chr9:137030800-137031400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:137030800-137031400	Enhancers	Primary T cells fromperipheralblood	blood
7	chr9:137030800-137031400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr9:137030800-137031400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:137030800-137031400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr9:137030800-137031400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:137030800-137031400	Enhancers	Brain Angular Gyrus	brain
12	chr9:137030800-137031400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:137030800-137031400	Enhancers	Fetal Muscle Leg	muscle
14	chr9:137030800-137031400	Enhancers	Lung	lung
15	chr9:137030800-137031400	Enhancers	Spleen	Spleen
16	chr9:137030800-137031600	Enhancers	Primary B cells from peripheral blood	blood
17	chr9:137030800-137031800	Enhancers	Esophagus	oesophagus
18	chr9:137030800-137031800	Enhancers	Pancreas	Pancrea
19	chr9:137030800-137032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:137030800-137035600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:137030800-137036000	Weak transcription	Fetal Kidney	kidney
22	chr9:137030800-137036200	Weak transcription	Right Atrium	heart
23	chr9:137030800-137040000	Weak transcription	Small Intestine	intestine
24	chr9:137031000-137031400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:137031000-137031400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:137031000-137031400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:137031000-137031400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:137031000-137031400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:137031000-137031400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:137031000-137031400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:137031000-137031400	Enhancers	Liver	Liver
32	chr9:137031000-137031400	Enhancers	Brain Anterior Caudate	brain
33	chr9:137031000-137031400	Enhancers	Brain Cingulate Gyrus	brain
34	chr9:137031000-137031400	Enhancers	Brain Germinal Matrix	brain
35	chr9:137031000-137031400	Enhancers	Fetal Thymus	thymus
36	chr9:137031000-137031400	Enhancers	HMEC	breast
37	chr9:137031000-137031600	Enhancers	Fetal Brain Female	brain
38	chr9:137031000-137031800	Enhancers	Fetal Muscle Trunk	muscle
39	chr9:137031000-137031800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr9:137031000-137032600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:137031000-137032600	Weak transcription	NH-A	brain
42	chr9:137031000-137034400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:137031000-137034800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr9:137031000-137035800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr9:137031000-137036000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr9:137031000-137036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr9:137031000-137036200	Weak transcription	NHDF-Ad	bronchial
48	chr9:137031000-137037400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:137031000-137040200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:137031200-137031400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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