Variant report

Variant	rs2306585
Chromosome Location	chr8:54756008-54756009
allele	A/C
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	ATF3	chr8:54755620-54756092	H1-hESC	embryonic stem cell:	n/a	chr8:54755844-54755853 chr8:54755833-54755853
2	POLR2A	chr8:54755357-54756174	K562	blood:	n/a	n/a
3	RUNX3	chr8:54755198-54756234	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:54755114-54756286	MCF-7	breast:	n/a	n/a
5	FOSL2	chr8:54755616-54756036	HepG2	liver:	n/a	n/a
6	ETS1	chr8:54755523-54756103	K562	blood:	n/a	chr8:54756057-54756068
7	GABPA	chr8:54755553-54756314	SK-N-SH	brain:	n/a	n/a
8	REST	chr8:54755335-54756286	HL-60	blood:	n/a	n/a
9	TEAD4	chr8:54755629-54756108	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr8:54755024-54756161	H1-hESC	embryonic stem cell:	n/a	n/a
11	ETS1	chr8:54755335-54756126	K562	blood:	n/a	chr8:54755351-54755362 chr8:54756107-54756117 chr8:54756057-54756068
12	HEY1	chr8:54755350-54756185	K562	blood:	n/a	chr8:54755668-54755683 chr8:54755666-54755681 chr8:54755919-54755934
13	POLR2A	chr8:54755536-54756148	PANC-1	pancreas:	n/a	n/a
14	HDAC2	chr8:54755086-54756062	MCF-7	breast:	n/a	n/a
15	ETS1	chr8:54755699-54756042	A549	lung:	n/a	n/a
16	REST	chr8:54755582-54756222	PFSK-1	brain:	n/a	n/a
17	ATF3	chr8:54755629-54756133	HepG2	liver:	n/a	chr8:54755844-54755853 chr8:54755833-54755853
18	MAZ	chr8:54755024-54756051	HepG2	liver:	n/a	chr8:54755843-54755854 chr8:54755845-54755854 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755868 chr8:54755842-54755855 chr8:54755844-54755853
19	USF1	chr8:54755170-54756140	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
20	SIN3AK20	chr8:54755325-54756219	PANC-1	pancreas:	n/a	n/a
21	SP1	chr8:54755552-54756172	A549	lung:	n/a	n/a
22	GATA3	chr8:54754884-54756075	T-47D	breast:	n/a	n/a
23	POLR2A	chr8:54755454-54756256	ProgFib	skin:	n/a	n/a
24	EP300	chr8:54755636-54756067	H1-hESC	embryonic stem cell:	n/a	chr8:54756057-54756066
25	TAF1	chr8:54755367-54756162	A549	lung:	n/a	n/a
26	ATF3	chr8:54755658-54756087	A549	lung:	n/a	chr8:54755844-54755853 chr8:54755833-54755853
27	POLR2A	chr8:54754999-54756642	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:54755375-54756521	GM12878	blood:	n/a	n/a
29	MYC	chr8:54755159-54756351	NB4	blood:	n/a	chr8:54755843-54755854 chr8:54755845-54755854 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755868 chr8:54755842-54755855 chr8:54755844-54755853
30	JUND	chr8:54755560-54756153	A549	lung:	n/a	n/a
31	MXI1	chr8:54755369-54756309	GM12878	blood:	n/a	chr8:54755843-54755852 chr8:54756015-54756024
32	BHLHE40	chr8:54755675-54756277	A549	lung:	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
33	YY1	chr8:54755062-54756149	K562	blood:	n/a	chr8:54756057-54756066
34	POLR2A	chr8:54755044-54756690	Hela-S3	cervix:	n/a	n/a
35	MXI1	chr8:54754928-54756631	IMR90	lung:	n/a	chr8:54755843-54755852 chr8:54756015-54756024
36	POLR2A	chr8:54755440-54756106	K562	blood:	n/a	n/a
37	POLR2A	chr8:54755564-54756153	A549	lung:	n/a	n/a
38	POLR2A	chr8:54755304-54756256	MCF-7	breast:	n/a	n/a
39	POLR2A	chr8:54755368-54756452	IMR90	lung:	n/a	n/a
40	MAX	chr8:54755217-54756350	HCT-116	colon:	n/a	chr8:54755843-54755854 chr8:54755845-54755854 chr8:54755858-54755867 chr8:54755844-54755853 chr8:54755857-54755868 chr8:54755842-54755855 chr8:54755844-54755853
41	SIN3AK20	chr8:54755438-54756070	HepG2	liver:	n/a	n/a
42	POLR2A	chr8:54755356-54756118	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF1	chr8:54755437-54756027	H1-neurons	neurons:	n/a	n/a
44	USF1	chr8:54755391-54756158	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
45	ZBTB7A	chr8:54755412-54756079	ECC-1	luminal epithelium:	n/a	n/a
46	TBL1XR1	chr8:54755495-54756027	K562	blood:	n/a	n/a
47	USF1	chr8:54755441-54756080	A549	lung:	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
48	EP300	chr8:54755625-54756174	ECC-1	luminal epithelium:	n/a	chr8:54756057-54756066 chr8:54756101-54756117
49	POLR2A	chr8:54754832-54756276	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:54755362-54756189	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:54755961-54756011	HL-60	blood:	n/a
2	chr8:54755981-54756031	HCF	heart:	n/a
3	chr8:54755981-54756031	NH-A	brain:	n/a
4	chr8:54755981-54756031	ovcar-3	ovarian:	n/a
5	chr8:54755981-54756031	IMR90	lung:	fetal
6	chr8:54755981-54756031	ProgFib	skin:	n/a
7	chr8:54755961-54756011	BE2_C	brain:	n/a
8	chr8:54755961-54756011	HRE	kidney:	n/a
9	chr8:54755961-54756011	IMR90	lung:	fetal
10	chr8:54755961-54756011	NHDF-neo	bronchial:	n/a
11	chr8:54755981-54756031	AG09309	skin:	n/a
12	chr8:54755961-54756011	HIPEpiC	eye:	n/a
13	chr8:54755981-54756031	BE2_C	brain:	n/a
14	chr8:54755961-54756011	GM19239	blood:	n/a
15	chr8:54755981-54756031	GM12891	blood:	n/a
16	chr8:54755961-54756011	RPTEC	kidney:	n/a
17	chr8:54755981-54756031	NHBE	bronchial:	n/a
18	chr8:54755961-54756011	GM12878	blood:	n/a
19	chr8:54755961-54756011	ProgFib	skin:	n/a
20	chr8:54755981-54756031	T-47D	breast:	n/a
21	chr8:54755961-54756011	GM12891	blood:	n/a
22	chr8:54755981-54756031	HMEC	breast:	n/a
23	chr8:54755961-54756011	HepG2	liver:	n/a
24	chr8:54755981-54756031	PrEC	prostate:	n/a
25	chr8:54755981-54756031	SK-N-SH_RA	brain:	n/a
26	chr8:54755981-54756031	PFSK-1	brain:	n/a
27	chr8:54755981-54756031	AG10803	skin:	n/a
28	chr8:54755961-54756011	HCM	heart:	n/a
29	chr8:54755961-54756011	BJ	skin:	n/a
30	chr8:54755961-54756011	MCF10A-Er-Src	breast:	n/a
31	chr8:54755961-54756011	SK-N-SH	brain:	n/a
32	chr8:54755981-54756031	CMK	blood:	n/a
33	chr8:54755961-54756011	SAEC	small airway:	n/a
34	chr8:54755961-54756011	U87	brain:	n/a
35	chr8:54755961-54756011	K562	blood:	n/a
36	chr8:54755981-54756031	NHDF-neo	bronchial:	n/a
37	chr8:54755981-54756031	SK-N-SH	brain:	n/a
38	chr8:54755981-54756031	HEEpiC	esophagus:	n/a
39	chr8:54755981-54756031	K562	blood:	n/a
40	chr8:54755981-54756031	BJ	skin:	n/a
41	chr8:54755981-54756031	HEK293	kidney:	embryo
42	chr8:54755981-54756031	AG04450	lung:	fetal
43	chr8:54755981-54756031	NT2-D1	testis:	n/a
44	chr8:54755981-54756031	MCF10A-Er-Src	breast:	n/a
45	chr8:54755961-54756011	NH-A	brain:	n/a
46	chr8:54755981-54756031	H1-hESC	embryonic stem cell:	embryo
47	chr8:54755961-54756011	Hepatocyte	liver:	n/a
48	chr8:54755961-54756011	Hela-S3	cervix:	n/a
49	chr8:54755961-54756011	NT2-D1	testis:	n/a
50	chr8:54755981-54756031	GM06990	blood:	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	chr8:54755728..54757820-chr8:101732813..101735091,2	MCF-7	breast:
4	chr8:54755454..54757105-chr8:54791568..54794141,2	K562	blood:
5	chr8:54755685..54759999-chr8:54761654..54766287,5	MCF-7	breast:
6	chr1:11968133..11968902-chr8:54755086..54756316,3	HCT-116	colon:
7	chr12:122240596..122241191-chr8:54755297..54756198,2	HCT-116	colon:
8	chr8:54749963..54753631-chr8:54753914..54756219,5	MCF-7	breast:
9	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:
10	chr8:53624816..53627483-chr8:54753343..54757526,4	K562	blood:

Variant related genes	Relation type
ATP6V1H	TF binding region
ATP6V1H	CpG island
ENSG00000047249	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000147509	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000023287	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000070756	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10504158	0.82[ASN][1000 genomes]
rs11985729	0.97[ASN][1000 genomes]
rs1483538	0.83[ASN][1000 genomes]
rs1483542	0.82[ASN][1000 genomes]
rs16919616	0.81[ASN][1000 genomes]
rs1842982	0.80[ASN][1000 genomes]
rs2062226	0.80[ASN][1000 genomes]
rs2306584	0.92[ASN][1000 genomes]
rs3824121	0.80[ASN][1000 genomes]
rs57546155	0.81[ASN][1000 genomes]
rs60696924	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60819522	0.95[ASN][1000 genomes]
rs61194604	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61433056	0.96[ASN][1000 genomes]
rs6994332	0.96[ASN][1000 genomes]
rs6997050	0.81[ASN][1000 genomes]
rs6998532	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7016171	0.96[ASN][1000 genomes]
rs7017291	0.96[ASN][1000 genomes]
rs73680325	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73680341	0.80[ASN][1000 genomes]
rs7827611	0.80[ASN][1000 genomes]
rs7831399	0.82[ASN][1000 genomes]
rs7846259	0.98[ASN][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	chr8:54753400-54756600	Active TSS	Brain Anterior Caudate	brain
2	chr8:54753600-54756600	Active TSS	NHLF	lung
3	chr8:54753800-54756600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:54754000-54756400	Active TSS	Stomach Smooth Muscle	stomach
5	chr8:54754000-54756600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr8:54754000-54756600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:54754000-54756600	Active TSS	Colonic Mucosa	Colon
8	chr8:54754000-54756600	Active TSS	Fetal Intestine Small	intestine
9	chr8:54754200-54756400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:54754200-54756400	Active TSS	Brain Angular Gyrus	brain
11	chr8:54754200-54756400	Active TSS	Brain Hippocampus Middle	brain
12	chr8:54754200-54756400	Active TSS	NHDF-Ad	bronchial
13	chr8:54754200-54756600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:54754200-54756600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:54754200-54756600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:54754200-54756600	Active TSS	Fetal Intestine Large	intestine
17	chr8:54754200-54756600	Active TSS	K562	blood
18	chr8:54754200-54756800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:54754400-54756200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:54754400-54756200	Active TSS	GM12878-XiMat	blood
21	chr8:54754400-54756400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:54754400-54756400	Active TSS	HMEC	breast
23	chr8:54754400-54756400	Active TSS	NHEK	skin
24	chr8:54754400-54756600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr8:54754400-54756600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:54754400-54756600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:54754400-54756600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:54754400-54756600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:54754400-54756600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:54754400-54756600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:54754400-54756600	Active TSS	HSMMtube	muscle
32	chr8:54754400-54757200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:54754600-54756200	Active TSS	Fetal Stomach	stomach
34	chr8:54754600-54756400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:54754600-54756400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr8:54754600-54756400	Active TSS	Fetal Kidney	kidney
37	chr8:54754600-54756600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:54754600-54756600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:54754600-54756600	Active TSS	Fetal Brain Female	brain
40	chr8:54754600-54756600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:54754800-54756200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr8:54754800-54756200	Active TSS	Fetal Thymus	thymus
43	chr8:54754800-54756200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr8:54754800-54756400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:54754800-54756400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:54754800-54756400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:54754800-54756400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:54754800-54756400	Active TSS	Brain Germinal Matrix	brain
49	chr8:54754800-54756400	Active TSS	Brain Substantia Nigra	brain
50	chr8:54754800-54756400	Active TSS	Colon Smooth Muscle	Colon

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