Variant report

Variant	rs72953080
Chromosome Location	chr6:119400285-119400286
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	MAX	chr6:119399697-119400390	A549	lung:	n/a	chr6:119400367-119400377
2	PML	chr6:119399660-119400518	K562	blood:	n/a	n/a
3	ZEB1	chr6:119398844-119400517	HepG2	liver:	n/a	chr6:119399243-119399255 chr6:119399243-119399254 chr6:119399246-119399253
4	E2F6	chr6:119398686-119400666	K562	blood:	n/a	chr6:119400473-119400480 chr6:119400473-119400480 chr6:119400473-119400480
5	CREB1	chr6:119399716-119400548	K562	blood:	n/a	n/a
6	CTCF	chr6:119400140-119400290	A549	lung:	n/a	n/a
7	REST	chr6:119398726-119400551	H1-neurons	neurons:	n/a	chr6:119399744-119399757 chr6:119399995-119400013 chr6:119399830-119399843 chr6:119399741-119399754 chr6:119399773-119399782 chr6:119399994-119400014 chr6:119399994-119400014
8	MYC	chr6:119400192-119400439	MCF-7	breast:	n/a	chr6:119400367-119400377
9	YY1	chr6:119399660-119400300	K562	blood:	n/a	chr6:119399842-119399856 chr6:119399999-119400008 chr6:119399759-119399768
10	RCOR1	chr6:119399652-119400363	K562	blood:	n/a	n/a
11	CHD2	chr6:119399735-119400410	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:119399969-119400362	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:119399058-119400521	K562	blood:	n/a	n/a
14	GTF2F1	chr6:119399984-119400321	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr6:119400193-119400527	K562	blood:	n/a	chr6:119400473-119400480 chr6:119400473-119400480 chr6:119400473-119400480
16	HA-E2F1	chr6:119399139-119400393	MCF-7	breast:	n/a	n/a
17	POLR2A	chr6:119399931-119400319	H1-hESC	embryonic stem cell:	n/a	n/a
18	EGR1	chr6:119400196-119400553	K562	blood:	n/a	chr6:119400363-119400373 chr6:119400363-119400376 chr6:119400364-119400374 chr6:119400362-119400377 chr6:119400363-119400376
19	CREB1	chr6:119399666-119400517	K562	blood:	n/a	n/a
20	MAX	chr6:119398731-119400520	ECC-1	luminal epithelium:	n/a	chr6:119398795-119398804 chr6:119398796-119398805 chr6:119400367-119400377
21	MAX	chr6:119398729-119400462	MCF-7	breast:	n/a	chr6:119398795-119398804 chr6:119398796-119398805 chr6:119400367-119400377
22	ATF2	chr6:119399940-119400338	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr6:119399958-119400506	K562	blood:	n/a	chr6:119400367-119400377
24	ARID3A	chr6:119400031-119400291	HepG2	liver:	n/a	n/a
25	MXI1	chr6:119399735-119400384	HepG2	liver:	n/a	n/a
26	MAX	chr6:119399712-119400437	SK-N-SH	brain:	n/a	chr6:119400367-119400377
27	RAD21	chr6:119399520-119400317	H1-hESC	embryonic stem cell:	n/a	chr6:119399753-119399767
28	NR2F2	chr6:119399862-119400491	K562	blood:	n/a	n/a
29	HCFC1	chr6:119399014-119400474	K562	blood:	n/a	n/a
30	ZMIZ1	chr6:119399998-119400340	K562	blood:	n/a	n/a
31	CTCF	chr6:119399933-119400308	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:119398882-119400358	HepG2	liver:	n/a	n/a
33	STAT5A	chr6:119399920-119400473	K562	blood:	n/a	n/a
34	IRF1	chr6:119399965-119400327	K562	blood:	n/a	n/a
35	POLR2A	chr6:119398934-119400418	K562	blood:	n/a	n/a
36	MAX	chr6:119399657-119400499	HCT-116	colon:	n/a	chr6:119400367-119400377
37	ZBTB7A	chr6:119399915-119400467	K562	blood:	n/a	n/a
38	CREB1	chr6:119398864-119400449	HepG2	liver:	n/a	n/a
39	TRIM28	chr6:119399929-119400339	K562	blood:	n/a	n/a
40	SETDB1	chr6:119399581-119400305	K562	blood:	n/a	n/a
41	MAX	chr6:119398742-119400639	HepG2	liver:	n/a	chr6:119398795-119398804 chr6:119398796-119398805 chr6:119400367-119400377
42	MAX	chr6:119399581-119400422	SK-N-SH	brain:	n/a	chr6:119400367-119400377
43	E2F4	chr6:119399127-119400559	K562	blood:	n/a	chr6:119400473-119400480 chr6:119400473-119400480 chr6:119400473-119400480
44	POLR2A	chr6:119399582-119400441	H1-neurons	neurons:	n/a	n/a
45	CREB1	chr6:119399691-119400326	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr6:119399719-119400585	SK-N-MC	brain:	n/a	n/a
47	MAX	chr6:119398880-119400340	HepG2	liver:	n/a	n/a
48	MAX	chr6:119398667-119400652	HepG2	liver:	n/a	chr6:119398795-119398804 chr6:119398796-119398805 chr6:119400367-119400377
49	RCOR1	chr6:119400125-119400312	K562	blood:	n/a	n/a
50	POLR2A	chr6:119399620-119400508	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:
2	chr6:119398174..119401168-chr6:119668507..119671059,2	K562	blood:
3	chr6:119255727..119258203-chr6:119400226..119402388,2	K562	blood:
4	chr6:119213805..119216904-chr6:119398441..119401842,5	K562	blood:
5	chr6:119340150..119341982-chr6:119399183..119401577,2	K562	blood:

Variant related genes	Relation type
FAM184A	TF binding region
ENSG00000111885	Chromatin interaction
ENSG00000253194	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10456919	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12189950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12190491	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12190974	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12193093	0.96[ASN][1000 genomes]
rs12195153	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12195334	0.96[ASN][1000 genomes]
rs12195400	0.96[ASN][1000 genomes]
rs12204929	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12214184	0.95[ASN][1000 genomes]
rs12214265	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1342793	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1418712	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1591368	0.96[ASN][1000 genomes]
rs1591369	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1775619	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2357022	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2782574	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2797355	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55810806	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55919736	0.96[ASN][1000 genomes]
rs56347939	0.96[ASN][1000 genomes]
rs603770	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706978	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706979	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72953079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7745460	0.95[ASN][1000 genomes]
rs7768348	0.82[ASN][1000 genomes]
rs794250	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs794252	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs794253	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs794254	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs794255	0.83[ASN][1000 genomes]
rs794259	0.82[ASN][1000 genomes]
rs797002	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs811584	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119397400-119400800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr6:119398000-119400600	Active TSS	Colon Smooth Muscle	Colon
3	chr6:119398000-119400800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:119398000-119401000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr6:119398200-119400400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:119398200-119400600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:119398200-119400600	Active TSS	Rectal Smooth Muscle	rectum
8	chr6:119398200-119400800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:119398200-119400800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:119398400-119400400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:119398400-119400600	Active TSS	Brain Hippocampus Middle	brain
12	chr6:119398400-119400600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:119398400-119400600	Active TSS	Fetal Intestine Small	intestine
14	chr6:119398400-119400800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:119398400-119401000	Active TSS	Ovary	ovary
16	chr6:119398400-119401200	Active TSS	Stomach Smooth Muscle	stomach
17	chr6:119398600-119401000	Active TSS	Right Atrium	heart
18	chr6:119398800-119400400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:119398800-119400800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:119398800-119400800	Active TSS	Fetal Kidney	kidney
21	chr6:119398800-119401000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:119399000-119400400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:119399000-119400400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr6:119399000-119400400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:119399000-119400600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:119399000-119400600	Active TSS	Brain Cingulate Gyrus	brain
27	chr6:119399000-119400600	Active TSS	Esophagus	oesophagus
28	chr6:119399000-119400600	Active TSS	Gastric	stomach
29	chr6:119399000-119400600	Active TSS	Left Ventricle	heart
30	chr6:119399000-119400800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr6:119399000-119400800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr6:119399000-119400800	Active TSS	Brain Anterior Caudate	brain
33	chr6:119399000-119400800	Bivalent/Poised TSS	A549	lung
34	chr6:119399000-119400800	Bivalent/Poised TSS	HSMMtube	muscle
35	chr6:119399200-119400400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:119399200-119400400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:119399200-119400400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr6:119399200-119400400	Active TSS	Liver	Liver
39	chr6:119399200-119400400	Active TSS	Small Intestine	intestine
40	chr6:119399200-119400600	Active TSS	Brain Angular Gyrus	brain
41	chr6:119399200-119400600	Active TSS	Brain Germinal Matrix	brain
42	chr6:119399200-119400600	Active TSS	Fetal Brain Female	brain
43	chr6:119399200-119400600	Bivalent/Poised TSS	Stomach Mucosa	stomach
44	chr6:119399200-119400800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:119399200-119400800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:119399200-119400800	Active TSS	Brain Substantia Nigra	brain
47	chr6:119399400-119400600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:119399400-119400600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:119399400-119400600	Active TSS	Pancreas	Pancrea
50	chr6:119399400-119400800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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