Variant report

Variant	rs73547901
Chromosome Location	chr8:11429280-11429281
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	FOXP2	chr8:11429080-11429625	PFSK-1	brain:	n/a	n/a
2	REST	chr8:11429205-11429541	SK-N-SH	brain:	n/a	n/a
3	HDAC2	chr8:11429062-11429614	MCF-7	breast:	n/a	n/a
4	EGR1	chr8:11429142-11429625	MCF-7	breast:	n/a	chr8:11429536-11429546 chr8:11429538-11429551
5	MAFK	chr8:11429045-11429346	HepG2	liver:	n/a	chr8:11429180-11429197
6	CTCF	chr8:11429140-11429290	BE2_C	brain:	n/a	n/a
7	EP300	chr8:11429252-11429576	SK-N-SH_RA	brain:	n/a	n/a
8	KAP1	chr8:11429212-11429760	U2OS	brain:	n/a	n/a
9	EP300	chr8:11429173-11429565	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr8:11427752-11430360	SK-N-SH	brain:	n/a	n/a
11	NFIC	chr8:11429114-11429735	SK-N-SH	brain:	n/a	n/a
12	MAX	chr8:11428780-11429688	MCF-7	breast:	n/a	chr8:11429536-11429546
13	POLR2A	chr8:11429280-11429288	MCF-7	breast:	n/a	n/a
14	HA-E2F1	chr8:11429224-11429784	MCF-7	breast:	n/a	chr8:11429516-11429526
15	RCOR1	chr8:11429192-11429586	Hela-S3	cervix:	n/a	n/a
16	GATA3	chr8:11428759-11429668	MCF-7	breast:	n/a	n/a
17	NR2F2	chr8:11429128-11429835	MCF-7	breast:	n/a	n/a
18	RAD21	chr8:11429237-11429568	SK-N-SH_RA	brain:	n/a	chr8:11429544-11429556 chr8:11429509-11429522
19	TCF7L2	chr8:11429216-11429638	MCF-7	breast:	n/a	n/a
20	MYC	chr8:11428730-11429661	MCF10A-Er-Src	breast:	n/a	chr8:11429536-11429546
21	POLR2A	chr8:11429080-11429432	MCF-7	breast:	n/a	n/a
22	MAFK	chr8:11429097-11429349	HepG2	liver:	n/a	chr8:11429180-11429197
23	NFIC	chr8:11429142-11429656	ECC-1	luminal epithelium:	n/a	n/a
24	GATA3	chr8:11429208-11429670	MCF-7	breast:	n/a	n/a
25	SIN3AK20	chr8:11428834-11429806	MCF-7	breast:	n/a	n/a
26	E2F4	chr8:11429236-11429632	MCF10A-Er-Src	breast:	n/a	chr8:11429516-11429526

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11428917..11429796-chr8:11587902..11588451,3	MCF-7	breast:
2	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:

Variant related genes	Relation type
LINC00208	TF binding region
ENSG00000170983	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	1.00[EUR][1000 genomes]
rs56888159	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	1.00[EUR][1000 genomes]
rs61372296	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs73533631	1.00[EUR][1000 genomes]
rs73533635	1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535733	1.00[EUR][1000 genomes]
rs73535736	1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543849	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73547893	1.00[EUR][1000 genomes]
rs73547902	1.00[EUR][1000 genomes]
rs7815435	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1016749	chr8:11422571-11466745	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11422600-11429600	Weak transcription	Right Atrium	heart
2	chr8:11424400-11430800	Enhancers	Fetal Heart	heart
3	chr8:11424600-11429600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11425200-11430800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:11425200-11440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11427400-11429600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11427400-11431000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr8:11428400-11431000	Enhancers	Left Ventricle	heart
9	chr8:11428400-11431200	Enhancers	Placenta	Placenta
10	chr8:11428600-11430000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:11428600-11430400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:11428600-11430600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:11428600-11430800	Bivalent Enhancer	NHEK	skin
14	chr8:11428800-11430400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr8:11428800-11431000	Enhancers	Right Ventricle	heart
16	chr8:11429000-11429400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:11429000-11430000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:11429000-11430200	Enhancers	Liver	Liver
19	chr8:11429000-11430400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:11429000-11431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:11429000-11431000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr8:11429000-11431000	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:11429000-11431000	Enhancers	Pancreas	Pancrea
24	chr8:11429000-11431600	Enhancers	Ovary	ovary
25	chr8:11429200-11429400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr8:11429200-11429400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:11429200-11429400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr8:11429200-11429400	Enhancers	HepG2	liver
29	chr8:11429200-11429400	Bivalent Enhancer	NHDF-Ad	bronchial
30	chr8:11429200-11429600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr8:11429200-11429800	Enhancers	Colon Smooth Muscle	Colon
32	chr8:11429200-11429800	Enhancers	Hela-S3	cervix
33	chr8:11429200-11430000	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:11429200-11430000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr8:11429200-11430200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
36	chr8:11429200-11430600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:11429200-11430600	Enhancers	HMEC	breast
38	chr8:11429200-11430600	Bivalent Enhancer	HSMMtube	muscle
39	chr8:11429200-11431000	Enhancers	Gastric	stomach
40	chr8:11429200-11431000	Enhancers	Spleen	Spleen
41	chr8:11429200-11431400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr8:11429200-11432600	Enhancers	Stomach Mucosa	stomach

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