Variant report

Variant	rs41272421
Chromosome Location	chr8:54755014-54755015
allele	C/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	FOXA1	chr8:54754930-54755290	T-47D	breast:	n/a	n/a
2	GATA3	chr8:54754884-54756075	T-47D	breast:	n/a	n/a
3	POLR2A	chr8:54754999-54756642	GM12878	blood:	n/a	n/a
4	MXI1	chr8:54754928-54756631	IMR90	lung:	n/a	chr8:54755843-54755852 chr8:54756015-54756024
5	POLR2A	chr8:54754832-54756276	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr8:54754967-54756185	HepG2	liver:	n/a	chr8:54755843-54755852 chr8:54756015-54756024
7	POLR2A	chr8:54754990-54756191	H1-neurons	neurons:	n/a	n/a
8	MYC	chr8:54755001-54756270	K562	blood:	n/a	chr8:54755843-54755854 chr8:54755845-54755854 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755868 chr8:54755842-54755855 chr8:54755844-54755853
9	BHLHE40	chr8:54754976-54756221	HepG2	liver:	n/a	chr8:54755915-54755931 chr8:54755842-54755855 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755866 chr8:54755859-54755868 chr8:54755844-54755853 chr8:54755852-54755873 chr8:54755843-54755852 chr8:54755858-54755867
10	ZC3H11A	chr8:54754970-54755170	K562	blood:	n/a	n/a
11	TBP	chr8:54754862-54755445	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr8:54754863-54755316	T-47D	breast:	n/a	n/a
13	SIN3A	chr8:54754913-54756257	H1-hESC	embryonic stem cell:	n/a	chr8:54755843-54755852 chr8:54755146-54755159 chr8:54755916-54755925 chr8:54755845-54755854
14	CHD1	chr8:54754583-54755521	H1-hESC	embryonic stem cell:	n/a	chr8:54755370-54755380
15	CHD1	chr8:54755001-54756394	GM12878	blood:	n/a	chr8:54755370-54755380
16	MXI1	chr8:54754729-54756650	SK-N-SH	brain:	n/a	chr8:54755843-54755852 chr8:54756015-54756024
17	HCFC1	chr8:54754994-54755178	K562	blood:	n/a	n/a
18	SIN3AK20	chr8:54754778-54756454	MCF-7	breast:	n/a	n/a
19	HCFC1	chr8:54754599-54756396	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:54754986-54756240	HepG2	liver:	n/a	n/a
21	BHLHE40	chr8:54754941-54756332	K562	blood:	n/a	chr8:54755915-54755931 chr8:54755842-54755855 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755866 chr8:54755859-54755868 chr8:54755844-54755853 chr8:54755852-54755873 chr8:54755843-54755852 chr8:54755858-54755867
22	MAFK	chr8:54754974-54755211	Hela-S3	cervix:	n/a	n/a
23	REST	chr8:54754846-54756470	H1-neurons	neurons:	n/a	n/a
24	JUND	chr8:54754972-54756397	K562	blood:	n/a	n/a
25	TAF1	chr8:54754929-54756193	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOXA1	chr8:54755008-54755343	HepG2	liver:	n/a	n/a
27	POLR2A	chr8:54754999-54756239	Hela-S3	cervix:	n/a	n/a
28	FOXA1	chr8:54754961-54755338	T-47D	breast:	n/a	n/a
29	JUN	chr8:54754805-54756507	K562	blood:	n/a	n/a
30	USF2	chr8:54755007-54756468	Hela-S3	cervix:	n/a	chr8:54755915-54755931 chr8:54755842-54755855 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755866 chr8:54755859-54755868 chr8:54755844-54755853 chr8:54755842-54755853 chr8:54755852-54755873 chr8:54755857-54755868 chr8:54755843-54755852 chr8:54755858-54755867
31	POLR2A	chr8:54755011-54756190	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr8:54754942-54756033	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:54754946-54756515	MCF10A-Er-Src	breast:	n/a	n/a
34	CUX1	chr8:54754894-54755094	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54651332..54653261-chr8:54754407..54756402,2	MCF-7	breast:
2	chr8:54754073..54757431-chr8:54763114..54767534,4	K562	blood:
3	chr8:54749963..54753631-chr8:54753914..54756219,5	MCF-7	breast:
4	chr8:54733544..54735901-chr8:54752993..54755423,2	MCF-7	breast:
5	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:
6	chr8:53624816..53627483-chr8:54753343..54757526,4	K562	blood:

Variant related genes	Relation type
ATP6V1H	TF binding region
ENSG00000023287	Chromatin interaction
ENSG00000047249	Chromatin interaction
ENSG00000147509	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11986029	1.00[EUR][1000 genomes]
rs16919597	1.00[EUR][1000 genomes]
rs60296248	1.00[EUR][1000 genomes]
rs60515635	1.00[EUR][1000 genomes]
rs73680327	1.00[EUR][1000 genomes]
rs73680328	1.00[EUR][1000 genomes]
rs73680329	1.00[EUR][1000 genomes]
rs73680330	1.00[EUR][1000 genomes]
rs73680331	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr8:54753400-54755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:54753400-54756600	Active TSS	Brain Anterior Caudate	brain
3	chr8:54753600-54755400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:54753600-54755400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:54753600-54756600	Active TSS	NHLF	lung
6	chr8:54753800-54756600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:54754000-54756400	Active TSS	Stomach Smooth Muscle	stomach
8	chr8:54754000-54756600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:54754000-54756600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:54754000-54756600	Active TSS	Colonic Mucosa	Colon
11	chr8:54754000-54756600	Active TSS	Fetal Intestine Small	intestine
12	chr8:54754200-54755200	Weak transcription	Spleen	Spleen
13	chr8:54754200-54755200	Flanking Active TSS	Dnd41	blood
14	chr8:54754200-54756400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:54754200-54756400	Active TSS	Brain Angular Gyrus	brain
16	chr8:54754200-54756400	Active TSS	Brain Hippocampus Middle	brain
17	chr8:54754200-54756400	Active TSS	NHDF-Ad	bronchial
18	chr8:54754200-54756600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr8:54754200-54756600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:54754200-54756600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:54754200-54756600	Active TSS	Fetal Intestine Large	intestine
22	chr8:54754200-54756600	Active TSS	K562	blood
23	chr8:54754200-54756800	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:54754400-54755200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr8:54754400-54755200	Flanking Active TSS	HUVEC	blood vessel
26	chr8:54754400-54755400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:54754400-54756200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:54754400-54756200	Active TSS	GM12878-XiMat	blood
29	chr8:54754400-54756400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:54754400-54756400	Active TSS	HMEC	breast
31	chr8:54754400-54756400	Active TSS	NHEK	skin
32	chr8:54754400-54756600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:54754400-54756600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:54754400-54756600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:54754400-54756600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr8:54754400-54756600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:54754400-54756600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:54754400-54756600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:54754400-54756600	Active TSS	HSMMtube	muscle
40	chr8:54754400-54757200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:54754600-54755200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr8:54754600-54755200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:54754600-54755200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:54754600-54755200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr8:54754600-54755200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:54754600-54755200	Flanking Active TSS	Liver	Liver
47	chr8:54754600-54756200	Active TSS	Fetal Stomach	stomach
48	chr8:54754600-54756400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr8:54754600-54756400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:54754600-54756400	Active TSS	Fetal Kidney	kidney

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