Variant report

Variant	rs67340775
Chromosome Location	chr6:28304384-28304385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:232)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:28302892-28305333	K562	blood:	n/a	n/a
2	CHD2	chr6:28302840-28304607	K562	blood:	n/a	n/a
3	YY1	chr6:28304236-28304636	GM12892	blood:	n/a	n/a
4	PAX5	chr6:28304240-28304544	GM12878	blood:	n/a	n/a
5	RELA	chr6:28303163-28304527	GM19099	blood:	n/a	n/a
6	CEBPB	chr6:28304053-28304853	K562	blood:	n/a	n/a
7	CCNT2	chr6:28302797-28304559	K562	blood:	n/a	chr6:28304330-28304339 chr6:28303751-28303760
8	TAF1	chr6:28302853-28304712	H1-neurons	neurons:	n/a	n/a
9	EP300	chr6:28302761-28305309	K562	blood:	n/a	n/a
10	STAT5A	chr6:28302827-28304817	GM12878	blood:	n/a	chr6:28303817-28303825 chr6:28303984-28303998
11	BCLAF1	chr6:28303392-28304883	K562	blood:	n/a	chr6:28303752-28303761
12	POLR2A	chr6:28302941-28304723	GM12892	blood:	n/a	n/a
13	REST	chr6:28303358-28304663	HL-60	blood:	n/a	n/a
14	SPI1	chr6:28304186-28304685	GM12878	blood:	n/a	chr6:28304590-28304597
15	MAX	chr6:28303370-28304420	HepG2	liver:	n/a	n/a
16	ATF2	chr6:28304185-28304710	GM12878	blood:	n/a	n/a
17	YY1	chr6:28304268-28304675	GM12892	blood:	n/a	n/a
18	EP300	chr6:28303515-28304671	GM12878	blood:	n/a	n/a
19	SMC3	chr6:28304082-28304470	HepG2	liver:	n/a	n/a
20	PAX5	chr6:28304226-28304614	GM12878	blood:	n/a	chr6:28304588-28304597
21	CHD2	chr6:28303045-28304674	GM12878	blood:	n/a	n/a
22	MTA3	chr6:28302958-28304943	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:28302808-28304634	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:28302740-28305408	K562	blood:	n/a	n/a
25	POLR2A	chr6:28302926-28305211	GM12891	blood:	n/a	n/a
26	ELK1	chr6:28303101-28304587	K562	blood:	n/a	n/a
27	JUN	chr6:28302649-28304752	K562	blood:	n/a	chr6:28304017-28304027
28	MXI1	chr6:28302942-28304803	K562	blood:	n/a	n/a
29	ATF1	chr6:28302803-28304590	K562	blood:	n/a	n/a
30	FOXA1	chr6:28303273-28304456	HepG2	liver:	n/a	n/a
31	EP300	chr6:28304175-28304745	K562	blood:	n/a	n/a
32	ATF3	chr6:28304227-28304634	K562	blood:	n/a	n/a
33	MYBL2	chr6:28302898-28304728	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:28303085-28304422	MCF10A-Er-Src	breast:	n/a	n/a
35	SIN3A	chr6:28303231-28304638	H1-hESC	embryonic stem cell:	n/a	n/a
36	SPI1	chr6:28304145-28304595	HL-60	blood:	n/a	n/a
37	POLR2A	chr6:28304306-28304422	GM12878	blood:	n/a	n/a
38	RELA	chr6:28303469-28304540	GM15510	blood:	n/a	n/a
39	POLR2A	chr6:28302815-28304652	HepG2	liver:	n/a	n/a
40	RFX5	chr6:28302436-28305318	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr6:28302881-28305223	K562	blood:	n/a	n/a
42	IKZF1	chr6:28303644-28304599	GM12878	blood:	n/a	n/a
43	BCLAF1	chr6:28304192-28304775	GM12878	blood:	n/a	n/a
44	PML	chr6:28302267-28305304	K562	blood:	n/a	n/a
45	USF2	chr6:28303151-28304435	Hela-S3	cervix:	n/a	n/a
46	CUX1	chr6:28302926-28304842	K562	blood:	n/a	n/a
47	RELA	chr6:28303111-28304863	GM18505	blood:	n/a	n/a
48	NFIC	chr6:28303075-28304848	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:28303046-28305232	GM12878	blood:	n/a	n/a
50	TEAD4	chr6:28302119-28305609	K562	blood:	n/a	n/a

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28109265..28112090-chr6:28302311..28305142,2	MCF-7	breast:
2	chr6:27775597..27780846-chr6:28300467..28304976,7	K562	blood:
3	chr17:1619890..1620593-chr6:28303901..28304775,2	Hela-S3	cervix:
4	chr6:28191649..28195458-chr6:28301378..28307708,9	K562	blood:
5	chr6:28303323..28305430-chr6:28323198..28325730,3	MCF-7	breast:
6	chr11:76495102..76495960-chr6:28303473..28304442,2	Hela-S3	cervix:
7	chr6:28099723..28110178-chr6:28301599..28306918,14	K562	blood:
8	chr6:27796630..27800125-chr6:28302655..28305022,3	K562	blood:
9	chr6:28247415..28251168-chr6:28301808..28306623,8	K562	blood:
10	chr6:27832606..27835088-chr6:28302807..28304572,2	K562	blood:
11	chr6:28293963..28296628-chr6:28301528..28305497,4	MCF-7	breast:
12	chr6:27832219..27835088-chr6:28302807..28305055,2	K562	blood:
13	chr6:28303262..28304846-chr9:91923985..91926684,2	MCF-7	breast:
14	chr6:27774293..27778194-chr6:28301096..28304976,3	K562	blood:
15	chr6:28109273..28111011-chr6:28302779..28305242,3	MCF-7	breast:
16	chr6:28218301..28221476-chr6:28302207..28305180,4	MCF-7	breast:
17	chr6:27798625..27800434-chr6:28302917..28305015,2	K562	blood:
18	chr6:28300850..28305636-chr6:28315212..28320749,12	MCF-7	breast:
19	chr6:28245880..28256877-chr6:28299741..28307557,21	K562	blood:
20	chr6:28232839..28237434-chr6:28303380..28305726,5	MCF-7	breast:
21	chr6:28234248..28238647-chr6:28302210..28305266,7	K562	blood:
22	chr6:28103055..28111556-chr6:28296771..28308203,17	K562	blood:
23	chr6:28233221..28238495-chr6:28301018..28307259,12	K562	blood:
24	chr12:125397947..125399800-chr6:28303115..28304778,2	K562	blood:
25	chr6:28184981..28190782-chr6:28297491..28307222,23	K562	blood:
26	chr6:28182366..28191375-chr6:28300021..28306741,17	K562	blood:
27	chr6:28191609..28196785-chr6:28301378..28305522,8	K562	blood:
28	chr6:28302165..28304933-chr6:28366158..28368845,2	K562	blood:
29	chr6:28126892..28131515-chr6:28301205..28304944,6	K562	blood:
30	chr6:28285662..28290423-chr6:28300603..28305447,9	MCF-7	breast:
31	chr6:28218514..28221776-chr6:28301462..28305432,7	K562	blood:
32	chr6:28248171..28250694-chr6:28301952..28304469,4	MCF-7	breast:
33	chr6:28287491..28290035-chr6:28302948..28305431,2	K562	blood:
34	chr6:27857690..27865363-chr6:28300493..28306970,14	K562	blood:
35	chr6:28226019..28228390-chr6:28303494..28305290,2	K562	blood:
36	chr6:27802790..27806364-chr6:28301138..28304856,3	K562	blood:
37	chr6:28303857..28304747-chr7:107383670..107384484,2	NB4	blood:
38	chr6:27113242..27115485-chr6:28302941..28304550,2	K562	blood:
39	chr6:28218514..28221956-chr6:28302143..28305192,6	K562	blood:
40	chr6:27857994..27864853-chr6:28300493..28305532,13	K562	blood:

No data

Variant related genes	Relation type
ZSCAN31	TF binding region
ENSG00000265565	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000158691	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000261839	Chromatin interaction
ENSG00000189134	Chromatin interaction
ENSG00000226314	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000197062	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000137338	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000105879	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000269293	Chromatin interaction
ENSG00000167716	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000198374	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000187626	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000238610	Chromatin interaction
ENSG00000270326	Chromatin interaction
ENSG00000182704	Chromatin interaction
ENSG00000137185	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs13190888	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13191038	0.87[EUR][1000 genomes]
rs13191786	0.98[EUR][1000 genomes]
rs13195291	0.91[EUR][1000 genomes]
rs13197633	0.91[EUR][1000 genomes]
rs13198809	0.94[EUR][1000 genomes]
rs13201308	0.84[EUR][1000 genomes]
rs13201681	0.94[EUR][1000 genomes]
rs13203816	0.84[EUR][1000 genomes]
rs13204012	0.98[EUR][1000 genomes]
rs13205211	0.98[EUR][1000 genomes]
rs13205911	0.84[EUR][1000 genomes]
rs13207345	0.98[EUR][1000 genomes]
rs13208096	0.98[EUR][1000 genomes]
rs13211507	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13213152	0.94[EUR][1000 genomes]
rs13213986	0.91[EUR][1000 genomes]
rs13214023	0.94[EUR][1000 genomes]
rs13217619	0.95[EUR][1000 genomes]
rs13217984	0.84[EUR][1000 genomes]
rs2232423	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2232426	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2232429	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33932084	0.96[EUR][1000 genomes]
rs34166054	0.84[EUR][1000 genomes]
rs34218844	0.98[EUR][1000 genomes]
rs34243448	0.98[EUR][1000 genomes]
rs34371502	0.84[EUR][1000 genomes]
rs34396849	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34505829	0.84[EUR][1000 genomes]
rs34546986	0.91[EUR][1000 genomes]
rs34588114	0.84[EUR][1000 genomes]
rs34661125	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34676049	0.94[EUR][1000 genomes]
rs34691223	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34765154	0.84[EUR][1000 genomes]
rs34832585	0.84[EUR][1000 genomes]
rs34871267	0.91[EUR][1000 genomes]
rs34878803	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34950484	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35001169	0.91[EUR][1000 genomes]
rs35016036	0.98[EUR][1000 genomes]
rs35017208	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35030260	1.00[EUR][1000 genomes]
rs35072899	0.98[EUR][1000 genomes]
rs35098436	0.84[EUR][1000 genomes]
rs35345226	0.84[EUR][1000 genomes]
rs35353359	0.94[EUR][1000 genomes]
rs35656932	0.91[EUR][1000 genomes]
rs35744819	0.94[EUR][1000 genomes]
rs35749575	0.84[EUR][1000 genomes]
rs35781323	0.84[EUR][1000 genomes]
rs35883476	0.91[EUR][1000 genomes]
rs36092177	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55690788	0.94[EUR][1000 genomes]
rs56075693	0.98[EUR][1000 genomes]
rs56189111	0.98[EUR][1000 genomes]
rs66886492	0.84[EUR][1000 genomes]
rs67297533	0.80[EUR][1000 genomes]
rs67381177	0.94[EUR][1000 genomes]
rs67981811	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67998226	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71559072	0.84[EUR][1000 genomes]
rs72846780	0.84[EUR][1000 genomes]
rs72846794	0.84[EUR][1000 genomes]
rs72854513	0.98[EUR][1000 genomes]
rs7752608	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67340775	AL022393.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28302200-28305400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:28302400-28304400	Active TSS	HSMMtube	muscle
3	chr6:28302400-28305200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:28302400-28305200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr6:28302400-28305600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:28302600-28304600	Active TSS	Colon Smooth Muscle	Colon
7	chr6:28302600-28305200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:28302600-28305200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:28302800-28304400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:28302800-28304400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:28302800-28304400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:28302800-28304400	Active TSS	A549	lung
13	chr6:28302800-28304400	Active TSS	HSMM	muscle
14	chr6:28302800-28304800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:28302800-28304800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:28302800-28304800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:28302800-28304800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:28302800-28304800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:28302800-28304800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:28302800-28304800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:28302800-28304800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:28302800-28304800	Active TSS	Aorta	Aorta
23	chr6:28302800-28305000	Active TSS	Colonic Mucosa	Colon
24	chr6:28302800-28305000	Active TSS	Right Atrium	heart
25	chr6:28302800-28305000	Active TSS	Right Ventricle	heart
26	chr6:28302800-28305200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:28302800-28305200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:28303000-28304400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:28303000-28304400	Active TSS	Brain Hippocampus Middle	brain
30	chr6:28303000-28304400	Active TSS	Esophagus	oesophagus
31	chr6:28303000-28304400	Active TSS	Pancreas	Pancrea
32	chr6:28303000-28304400	Active TSS	Thymus	Thymus
33	chr6:28303000-28304600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:28303000-28304600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:28303000-28304600	Active TSS	K562	blood
36	chr6:28303000-28304800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:28303000-28304800	Active TSS	Left Ventricle	heart
38	chr6:28303000-28304800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr6:28303000-28305000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:28303000-28305200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr6:28303000-28305200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:28303200-28304400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:28303200-28304400	Active TSS	Liver	Liver
44	chr6:28303200-28304400	Active TSS	Brain Anterior Caudate	brain
45	chr6:28303200-28304400	Active TSS	Brain Cingulate Gyrus	brain
46	chr6:28303200-28304400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:28303200-28304400	Active TSS	Brain Substantia Nigra	brain
48	chr6:28303200-28304400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr6:28303200-28304400	Active TSS	Fetal Brain Female	brain
50	chr6:28303200-28304400	Active TSS	Fetal Kidney	kidney

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