Variant report

Variant	rs73257475
Chromosome Location	chr8:61430402-61430403
allele	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	FOXA1	chr8:61430382-61430719	HepG2	liver:	n/a	chr8:61430699-61430711
2	MXI1	chr8:61430040-61430681	K562	blood:	n/a	n/a
3	CEBPB	chr8:61429760-61431045	IMR90	lung:	n/a	chr8:61430828-61430841 chr8:61430830-61430841 chr8:61430828-61430839 chr8:61430849-61430860 chr8:61430828-61430841
4	FOXA1	chr8:61430360-61430685	T-47D	breast:	n/a	n/a
5	POLR2A	chr8:61428864-61430905	GM12878	blood:	n/a	n/a
6	FOXA1	chr8:61430401-61430987	HepG2	liver:	n/a	chr8:61430699-61430711 chr8:61430761-61430773
7	TBP	chr8:61429141-61430844	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:61429407-61430946	HepG2	liver:	n/a	n/a
9	MXI1	chr8:61428929-61430766	Hela-S3	cervix:	n/a	n/a
10	MAX	chr8:61429094-61430642	K562	blood:	n/a	chr8:61430492-61430501
11	MAX	chr8:61430317-61430564	K562	blood:	n/a	chr8:61430492-61430501
12	POLR2A	chr8:61429120-61430636	K562	blood:	n/a	n/a
13	POLR2A	chr8:61428904-61430450	Hela-S3	cervix:	n/a	n/a
14	FOXA1	chr8:61430273-61430754	T-47D	breast:	n/a	chr8:61430699-61430711
15	MAZ	chr8:61429152-61430500	HepG2	liver:	n/a	n/a
16	SIN3A	chr8:61429159-61430788	GM12878	blood:	n/a	chr8:61429941-61429955 chr8:61429951-61429960 chr8:61429348-61429359 chr8:61430031-61430042
17	MYC	chr8:61429029-61430971	NB4	blood:	n/a	chr8:61430492-61430501
18	MAX	chr8:61428759-61430729	A549	lung:	n/a	chr8:61430492-61430501
19	FOXA2	chr8:61430374-61430970	HepG2	liver:	n/a	chr8:61430699-61430711 chr8:61430761-61430773
20	SIN3AK20	chr8:61428852-61430796	MCF-7	breast:	n/a	n/a
21	ELF1	chr8:61428996-61430407	GM12878	blood:	n/a	chr8:61429498-61429507 chr8:61429511-61429520 chr8:61429522-61429531 chr8:61429512-61429524 chr8:61429484-61429496 chr8:61429478-61429490 chr8:61429844-61429856 chr8:61429335-61429347 chr8:61429497-61429508
22	MYC	chr8:61428903-61430881	K562	blood:	n/a	chr8:61430492-61430501
23	POLR2A	chr8:61428585-61430878	MCF10A-Er-Src	breast:	n/a	n/a
24	MAX	chr8:61428958-61431030	NB4	blood:	n/a	chr8:61430492-61430501
25	PML	chr8:61428886-61430680	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:61428812-61430640	K562	blood:	n/a	n/a
27	MXI1	chr8:61428747-61431095	IMR90	lung:	n/a	n/a
28	MYC	chr8:61428945-61431002	MCF10A-Er-Src	breast:	n/a	chr8:61430492-61430501
29	POLR2A	chr8:61428837-61430518	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:61428769-61430575	K562	blood:	n/a	n/a
31	POLR2A	chr8:61430345-61430917	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:61429014-61430515	GM12892	blood:	n/a	n/a
33	POLR2A	chr8:61429018-61430925	GM18505	blood:	n/a	n/a
34	MAX	chr8:61428780-61431065	HepG2	liver:	n/a	chr8:61430492-61430501
35	POLR2A	chr8:61428912-61431022	IMR90	lung:	n/a	n/a
36	POLR2A	chr8:61428823-61430664	Hela-S3	cervix:	n/a	n/a
37	ELF1	chr8:61428752-61430416	GM12878	blood:	n/a	chr8:61429498-61429507 chr8:61429511-61429520 chr8:61429522-61429531 chr8:61429512-61429524 chr8:61429484-61429496 chr8:61429478-61429490 chr8:61429844-61429856 chr8:61429335-61429347 chr8:61429497-61429508
38	GATA3	chr8:61430383-61430701	T-47D	breast:	n/a	n/a
39	REST	chr8:61428865-61430501	H1-neurons	neurons:	n/a	chr8:61429985-61429998 chr8:61429714-61429732
40	POLR2A	chr8:61428909-61432038	HepG2	liver:	n/a	n/a
41	MAX	chr8:61428926-61430588	GM12878	blood:	n/a	chr8:61430492-61430501
42	MAX	chr8:61430350-61430648	K562	blood:	n/a	chr8:61430492-61430501
43	USF2	chr8:61430004-61430613	GM12878	blood:	n/a	n/a
44	SIN3A	chr8:61428925-61430639	H1-hESC	embryonic stem cell:	n/a	chr8:61429941-61429955 chr8:61429951-61429960 chr8:61429348-61429359 chr8:61430031-61430042
45	BHLHE40	chr8:61429982-61430628	HepG2	liver:	n/a	n/a
46	FOXM1	chr8:61429391-61430406	GM12878	blood:	n/a	n/a
47	MAX	chr8:61428910-61430658	SK-N-SH	brain:	n/a	chr8:61430492-61430501
48	SIN3AK20	chr8:61430377-61430602	PFSK-1	brain:	n/a	n/a
49	FOXA1	chr8:61430371-61430960	HepG2	liver:	n/a	chr8:61430699-61430711 chr8:61430761-61430773
50	POLR2A	chr8:61428874-61430878	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:61428381..61431496-chr8:61588452..61591900,3	K562	blood:
2	chr8:61429468..61431258-chr8:61590540..61592110,2	MCF-7	breast:
3	chr8:61430121..61431821-chr8:61449801..61452122,2	K562	blood:
4	chr8:61419831..61423917-chr8:61427877..61431057,5	MCF-7	breast:
5	chr15:85923388..85924197-chr8:61429768..61430470,2	Hela-S3	cervix:
6	chr8:61418332..61424473-chr8:61425755..61430943,9	K562	blood:
7	chr8:61429938..61430523-chr8:61626386..61627209,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251396	TF binding region
ENSG00000171316	Chromatin interaction
ENSG00000251396	Chromatin interaction
ENSG00000170776	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs16926265	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56957672	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58916286	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531479	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	0.91[EUR][1000 genomes]
rs60448147	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003631	1.00[ASN][1000 genomes]
rs7013829	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257451	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73257453	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73259441	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826092	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	0.91[EUR][1000 genomes];1.00[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3398933	chr8:61428423-61431271	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3368567	chr8:61428748-61430846	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:61428200-61430800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:61428400-61430800	Active TSS	Adipose Nuclei	Adipose
3	chr8:61428400-61430800	Active TSS	HMEC	breast
4	chr8:61428400-61430800	Active TSS	NHEK	skin
5	chr8:61428400-61431400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:61428400-61431400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr8:61428400-61431400	Active TSS	A549	lung
8	chr8:61428400-61431400	Active TSS	NHLF	lung
9	chr8:61428400-61431600	Active TSS	NHDF-Ad	bronchial
10	chr8:61428600-61430600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:61428600-61430600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:61428600-61430800	Active TSS	HUVEC	blood vessel
13	chr8:61428600-61431000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:61428600-61431200	Active TSS	Fetal Intestine Small	intestine
15	chr8:61428600-61431200	Active TSS	Hela-S3	cervix
16	chr8:61428600-61431200	Active TSS	K562	blood
17	chr8:61428600-61431400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:61428600-61431400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:61428600-61431400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr8:61428600-61432000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:61428600-61432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:61428600-61432400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:61428600-61434400	Active TSS	GM12878-XiMat	blood
24	chr8:61428800-61430600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:61428800-61430600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:61428800-61430600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:61428800-61430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:61428800-61430600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:61428800-61430600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:61428800-61430600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:61428800-61430600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:61428800-61430600	Active TSS	Liver	Liver
33	chr8:61428800-61430600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:61428800-61430600	Active TSS	Spleen	Spleen
35	chr8:61428800-61430800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:61428800-61430800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:61428800-61430800	Active TSS	Brain Hippocampus Middle	brain
38	chr8:61428800-61430800	Active TSS	Brain Substantia Nigra	brain
39	chr8:61428800-61430800	Active TSS	Fetal Lung	lung
40	chr8:61428800-61430800	Active TSS	Fetal Stomach	stomach
41	chr8:61428800-61430800	Active TSS	Thymus	Thymus
42	chr8:61428800-61430800	Bivalent/Poised TSS	HepG2	liver
43	chr8:61428800-61431000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr8:61428800-61431000	Active TSS	Gastric	stomach
45	chr8:61428800-61431000	Active TSS	Small Intestine	intestine
46	chr8:61428800-61431000	Active TSS	Stomach Mucosa	stomach
47	chr8:61428800-61431200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:61428800-61431200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:61428800-61431200	Active TSS	Ovary	ovary
50	chr8:61428800-61431200	Active TSS	Rectal Mucosa Donor 31	rectum

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