Variant report

Variant	rs73359145
Chromosome Location	chr6:13286625-13286626
allele	G/T
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	SPI1	chr6:13286490-13286724	GM12878	blood:	n/a	chr6:13286612-13286625
2	BHLHE40	chr6:13286476-13286816	GM12878	blood:	n/a	n/a
3	SPI1	chr6:13286228-13287136	GM12878	blood:	n/a	chr6:13286612-13286625
4	POLR2A	chr6:13286577-13289782	GM12878	blood:	n/a	n/a
5	MEF2A	chr6:13286380-13286757	GM12878	blood:	n/a	chr6:13286642-13286657
6	POLR2A	chr6:13284901-13290945	K562	blood:	n/a	n/a
7	SPI1	chr6:13286394-13286761	GM12878	blood:	n/a	chr6:13286612-13286625
8	SPI1	chr6:13286488-13286694	K562	blood:	n/a	chr6:13286612-13286625
9	POLR2A	chr6:13286513-13286629	GM12878	blood:	n/a	n/a
10	FOXM1	chr6:13286299-13286884	GM12878	blood:	n/a	n/a
11	SPI1	chr6:13285883-13286953	HL-60	blood:	n/a	chr6:13286612-13286625 chr6:13286130-13286143 chr6:13286134-13286141
12	MTA3	chr6:13286275-13286980	GM12878	blood:	n/a	n/a
13	IKZF1	chr6:13286409-13286770	GM12878	blood:	n/a	n/a
14	RUNX3	chr6:13286344-13286808	GM12878	blood:	n/a	n/a
15	ZNF143	chr6:13286542-13286695	GM12878	blood:	n/a	n/a
16	NFIC	chr6:13286281-13286768	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:13286472-13287355	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:13285873-13286791	HL-60	blood:	n/a	n/a
19	POLR2A	chr6:13284889-13290972	GM12891	blood:	n/a	n/a
20	EBF1	chr6:13286529-13286681	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:13286607-13288340	A549	lung:	n/a	n/a
22	POLR2A	chr6:13284835-13292200	GM12878	blood:	n/a	n/a
23	SPI1	chr6:13286376-13286877	HL-60	blood:	n/a	chr6:13286612-13286625
24	WRNIP1	chr6:13286566-13286785	GM12878	blood:	n/a	n/a
25	SPI1	chr6:13286340-13286817	GM12891	blood:	n/a	chr6:13286612-13286625
26	REST	chr6:13286527-13286773	Hela-S3	cervix:	n/a	n/a
27	SPI1	chr6:13286383-13286858	GM12891	blood:	n/a	chr6:13286612-13286625
28	POLR2A	chr6:13286475-13287398	GM12892	blood:	n/a	n/a
29	TCF3	chr6:13286528-13286717	GM12878	blood:	n/a	n/a
30	RUNX3	chr6:13286344-13286846	GM12878	blood:	n/a	n/a
31	E2F6	chr6:13286353-13286810	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:13286487-13286674	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13281485..13284268-chr6:13286198..13288024,2	K562	blood:
2	chr6:13272685..13275870-chr6:13286064..13289898,4	K562	blood:
3	chr6:13284401..13286648-chr6:13326821..13329047,2	MCF-7	breast:
4	chr1:1508619..1510738-chr6:13285485..13287927,2	K562	blood:
5	chr6:13285089..13286893-chr6:13290326..13292618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215022	TF binding region
ENSG00000215022	Chromatin interaction
ENSG00000160075	Chromatin interaction
ENSG00000215014	Chromatin interaction
ENSG00000112137	Chromatin interaction
ENSG00000145979	Chromatin interaction
ENSG00000272379	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57445622	1.00[AMR][1000 genomes]
rs61363396	1.00[AMR][1000 genomes]
rs61414948	1.00[AMR][1000 genomes]
rs73357157	1.00[AMR][1000 genomes]
rs73357174	1.00[AMR][1000 genomes]
rs73357177	1.00[AMR][1000 genomes]
rs73357197	1.00[AMR][1000 genomes]
rs73359103	1.00[AMR][1000 genomes]
rs73359153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
2	chr6:13270200-13291600	Weak transcription	HSMM	muscle
3	chr6:13271600-13287200	Weak transcription	Fetal Lung	lung
4	chr6:13273400-13286800	Weak transcription	Liver	Liver
5	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
6	chr6:13274400-13286800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:13274400-13287200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
9	chr6:13274600-13286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
11	chr6:13274800-13287000	Weak transcription	Thymus	Thymus
12	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:13275000-13286800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:13275000-13287000	Weak transcription	Gastric	stomach
15	chr6:13275600-13287000	Weak transcription	Adipose Nuclei	Adipose
16	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:13276000-13287400	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr6:13277400-13287000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:13279200-13287000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:13279400-13286800	Weak transcription	Fetal Intestine Large	intestine
21	chr6:13279400-13287800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:13280000-13288000	Strong transcription	Brain Anterior Caudate	brain
23	chr6:13280000-13289000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:13280000-13292600	Weak transcription	NHLF	lung
25	chr6:13280200-13292400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:13280800-13287000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:13280800-13287600	Weak transcription	NHDF-Ad	bronchial
28	chr6:13281200-13287000	Weak transcription	Primary T cells from cord blood	blood
29	chr6:13281400-13287000	Weak transcription	Placenta	Placenta
30	chr6:13282400-13287000	Strong transcription	Left Ventricle	heart
31	chr6:13282800-13289400	Strong transcription	Right Ventricle	heart
32	chr6:13282800-13291600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:13283400-13287800	Strong transcription	Brain Hippocampus Middle	brain
34	chr6:13283600-13286800	Strong transcription	Fetal Brain Female	brain
35	chr6:13283600-13286800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr6:13283600-13287000	Strong transcription	Brain Germinal Matrix	brain
37	chr6:13283600-13287200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr6:13283600-13287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:13283600-13287400	Strong transcription	Pancreas	Pancrea
40	chr6:13283600-13288600	Strong transcription	Aorta	Aorta
41	chr6:13283600-13289600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:13284000-13293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:13284000-13294200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:13284200-13286800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:13284200-13286800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:13284200-13287000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:13284200-13287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:13284200-13287000	Weak transcription	Esophagus	oesophagus
49	chr6:13285000-13286800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr6:13285000-13287000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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