Variant report

Variant	rs11993362
Chromosome Location	chr8:48874811-48874812
allele	A/C/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	chr8:48874499-48874969	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:48872336-48874857	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:48872146-48875294	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:48871915-48874902	K562	blood:	n/a	n/a
5	BACH1	chr8:48874797-48874813	K562	blood:	n/a	n/a
6	JUN	chr8:48872218-48874858	K562	blood:	n/a	chr8:48873984-48873992 chr8:48873652-48873661 chr8:48873988-48873995 chr8:48873986-48873995 chr8:48872266-48872275
7	MXI1	chr8:48872162-48875322	IMR90	lung:	n/a	n/a
8	POLR2A	chr8:48874625-48874841	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr8:48872176-48875093	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr8:48874581-48874946	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:48872081-48875144	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr8:48874560-48874891	K562	blood:	n/a	n/a
13	YY1	chr8:48874690-48874933	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:48872266-48874841	Raji	blood:	n/a	n/a
15	POLR2A	chr8:48872223-48874848	GM12878	blood:	n/a	n/a
16	RCOR1	chr8:48874738-48874909	K562	blood:	n/a	n/a
17	BHLHE40	chr8:48872531-48874820	GM12878	blood:	n/a	chr8:48873449-48873465 chr8:48874352-48874361 chr8:48873801-48873817 chr8:48873882-48873898 chr8:48872698-48872714 chr8:48872787-48872803 chr8:48873825-48873841
18	JUND	chr8:48872188-48874839	SK-N-SH	brain:	n/a	chr8:48873984-48873992 chr8:48873652-48873661 chr8:48873985-48873996 chr8:48873988-48873995 chr8:48873986-48873995 chr8:48872266-48872275

No.	Distal block	Cell Line	Cell type
1	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:
2	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
3	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
4	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
5	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:
6	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
7	chr8:48873449..48876076-chr8:48887828..48890421,3	MCF-7	breast:

Variant related genes	Relation type
MCM4	TF binding region
PRKDC	TF binding region
ENSG00000253729	Chromatin interaction
ENSG00000169139	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16930869	1.00[AMR][1000 genomes]
rs17287761	0.83[AMR][1000 genomes]
rs17334409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17334458	0.83[AMR][1000 genomes]
rs41390145	0.85[MKK][hapmap];0.83[AMR][1000 genomes]
rs56110471	0.83[AMR][1000 genomes]
rs56411879	0.83[AMR][1000 genomes]
rs6473933	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7014911	1.00[AMR][1000 genomes]
rs7814219	1.00[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.90[YRI][hapmap]
rs7814331	0.83[AMR][1000 genomes]
rs7837384	0.83[AMR][1000 genomes]
rs7840736	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178010	0.83[AMR][1000 genomes]
rs8178033	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178042	1.00[AMR][1000 genomes]
rs8178153	1.00[AMR][1000 genomes]
rs8178193	1.00[AMR][1000 genomes]
rs8178228	0.83[AMR][1000 genomes]
rs8178267	0.83[AMR][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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 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	chr8:48871600-48875000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:48871800-48875000	Active TSS	Fetal Kidney	kidney
3	chr8:48872000-48875000	Active TSS	Small Intestine	intestine
4	chr8:48873600-48875000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:48873800-48875000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:48873800-48875000	Flanking Active TSS	HUVEC	blood vessel
7	chr8:48874000-48875000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:48874000-48875200	Flanking Active TSS	HMEC	breast
9	chr8:48874000-48875400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
10	chr8:48874000-48875800	Transcr. at gene 5' and 3'	A549	lung
11	chr8:48874000-48876400	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr8:48874200-48875000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:48874200-48875000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:48874200-48875000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:48874200-48875000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
16	chr8:48874200-48875000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:48874200-48875000	Transcr. at gene 5' and 3'	Fetal Lung	lung
18	chr8:48874200-48875000	Transcr. at gene 5' and 3'	NHEK	skin
19	chr8:48874200-48875200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
20	chr8:48874200-48875200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:48874200-48875200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:48874200-48875200	Transcr. at gene 5' and 3'	K562	blood
23	chr8:48874200-48875400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
24	chr8:48874200-48876200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:48874200-48877800	Weak transcription	Aorta	Aorta
26	chr8:48874400-48875000	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:48874400-48875000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:48874400-48875000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:48874400-48875000	Enhancers	Fetal Brain Male	brain
30	chr8:48874400-48875200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:48874400-48875200	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:48874400-48875400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:48874400-48875600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:48874400-48875600	Weak transcription	Left Ventricle	heart
35	chr8:48874400-48875800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:48874400-48876000	Transcr. at gene 5' and 3'	Hela-S3	cervix
37	chr8:48874400-48877200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:48874400-48877200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:48874400-48877200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:48874400-48877400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:48874400-48877600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:48874400-48877600	Weak transcription	Pancreas	Pancrea
43	chr8:48874400-48877800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:48874400-48877800	Weak transcription	Ovary	ovary
45	chr8:48874400-48878000	Weak transcription	Colonic Mucosa	Colon
46	chr8:48874400-48878000	Weak transcription	Psoas Muscle	Psoas
47	chr8:48874400-48878600	Weak transcription	HSMMtube	muscle
48	chr8:48874400-48881600	Weak transcription	Right Atrium	heart
49	chr8:48874400-48888800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:48874600-48875000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell

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