Variant report

Variant	rs9341753
Chromosome Location	chr6:79577796-79577797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:79576916-79577904	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr6:79576821-79578129	HEK293	kidney:	n/a	n/a
3	MXI1	chr6:79576715-79578583	SK-N-SH	brain:	n/a	chr6:79577948-79577957 chr6:79577265-79577280
4	CTCF	chr6:79577660-79577810	AG09309	skin:	n/a	n/a
5	TCF7L2	chr6:79576788-79577883	Hela-S3	cervix:	n/a	n/a
6	FOXM1	chr6:79576705-79577828	GM12878	blood:	n/a	n/a
7	TAF1	chr6:79576837-79577834	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:79576902-79577885	GM12892	blood:	n/a	n/a
9	CREB1	chr6:79576734-79577856	GM12878	blood:	n/a	n/a
10	JUND	chr6:79577025-79577951	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr6:79577099-79577850	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:79576926-79577852	MCF10A-Er-Src	breast:	n/a	n/a
13	GTF2B	chr6:79577045-79577801	K562	blood:	n/a	n/a
14	SIN3A	chr6:79576985-79577967	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577957
15	CEBPB	chr6:79576983-79577921	Hela-S3	cervix:	n/a	chr6:79577904-79577917
16	TAF1	chr6:79576721-79577898	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:79576878-79577843	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:79576958-79577801	NB4	blood:	n/a	n/a
19	ELF1	chr6:79576904-79577807	GM12878	blood:	n/a	n/a
20	JUND	chr6:79576885-79577817	K562	blood:	n/a	n/a
21	E2F6	chr6:79576964-79577829	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP4	chr6:79577390-79577903	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:79576920-79577810	GM12891	blood:	n/a	n/a
24	CTCF	chr6:79577480-79577939	K562	blood:	n/a	n/a
25	ZEB1	chr6:79577022-79577815	GM12878	blood:	n/a	n/a
26	YY1	chr6:79576970-79577807	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr6:79577296-79577899	GM12878	blood:	n/a	n/a
28	CTCF	chr6:79577720-79577870	HFF-Myc	foreskin:	n/a	n/a
29	MYC	chr6:79576898-79577860	K562	blood:	n/a	n/a
30	POLR2A	chr6:79576751-79577879	HL-60	blood:	n/a	n/a
31	POLR2A	chr6:79576804-79577809	GM12878	blood:	n/a	n/a
32	MAX	chr6:79576714-79577960	HCT-116	colon:	n/a	chr6:79577948-79577958
33	YY1	chr6:79576936-79577797	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr6:79576808-79577821	MCF-7	breast:	n/a	n/a
35	ZNF143	chr6:79576790-79577833	GM12878	blood:	n/a	n/a
36	TBP	chr6:79576903-79577889	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr6:79576785-79577878	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr6:79577043-79578026	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577958
39	CREB1	chr6:79577301-79577815	K562	blood:	n/a	n/a
40	CREB1	chr6:79577243-79577854	K562	blood:	n/a	n/a
41	POLR2A	chr6:79576906-79577801	GM12891	blood:	n/a	n/a
42	POLR2A	chr6:79576773-79577829	GM12891	blood:	n/a	n/a
43	CHD2	chr6:79576913-79577825	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr6:79576921-79577833	A549	lung:	n/a	n/a
45	STAT5A	chr6:79576924-79577804	GM12878	blood:	n/a	n/a
46	CEBPB	chr6:79577057-79577817	MCF-7	breast:	n/a	n/a
47	POLR2A	chr6:79576840-79577891	GM18526	blood:	n/a	n/a
48	MAX	chr6:79576790-79577803	SK-N-SH	brain:	n/a	n/a
49	CEBPB	chr6:79577090-79577939	HepG2	liver:	n/a	chr6:79577904-79577917
50	MAX	chr6:79576767-79577817	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79575800..79578597-chr6:79786334..79789260,2	MCF-7	breast:
2	chr6:79576198..79578688-chr6:79580398..79583072,2	K562	blood:

No data

Variant related genes	Relation type
IRAK1BP1	TF binding region
ENSG00000146247	Chromatin interaction
ENSG00000146243	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10806154	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11758432	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11964204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12176511	0.94[ASN][1000 genomes]
rs12192086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1338023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2275290	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2275291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2321897	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3805746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3818839	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3929867	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6908105	0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7740307	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7750836	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7756648	0.84[ASN][1000 genomes]
rs9343849	0.86[ASN][1000 genomes]
rs9343853	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9343859	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9343865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9343867	0.90[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs9350797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9350801	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9352668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9352672	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352685	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9352688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9359361	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9361459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9361473	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9361478	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9361481	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs9361483	0.87[EUR][1000 genomes]
rs9443623	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9448581	0.93[ASN][1000 genomes]
rs9448594	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9448600	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9448616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9688928	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv970379	chr6:79571879-79578296	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 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	chr6:79574600-79578400	Active TSS	K562	blood
2	chr6:79576000-79578600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:79576200-79577800	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr6:79576200-79578000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:79576200-79578000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr6:79576200-79578200	Active TSS	Brain Hippocampus Middle	brain
7	chr6:79576200-79578200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr6:79576200-79578200	Active TSS	A549	lung
9	chr6:79576200-79578400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:79576200-79578400	Active TSS	Hela-S3	cervix
11	chr6:79576200-79578600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:79576200-79578600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:79576200-79578600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:79576200-79578600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:79576400-79577800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:79576400-79577800	Active TSS	HUVEC	blood vessel
17	chr6:79576400-79578000	Active TSS	Fetal Brain Female	brain
18	chr6:79576400-79578000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:79576400-79578200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:79576400-79578200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:79576400-79578200	Active TSS	Brain Angular Gyrus	brain
22	chr6:79576400-79578200	Active TSS	Psoas Muscle	Psoas
23	chr6:79576400-79578200	Active TSS	HMEC	breast
24	chr6:79576400-79578200	Active TSS	NHEK	skin
25	chr6:79576400-79578400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:79576400-79578400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:79576400-79578400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:79576400-79578400	Active TSS	Duodenum Mucosa	Duodenum
29	chr6:79576400-79578400	Active TSS	Fetal Kidney	kidney
30	chr6:79576400-79578400	Active TSS	Fetal Lung	lung
31	chr6:79576400-79578400	Active TSS	Rectal Smooth Muscle	rectum
32	chr6:79576400-79578400	Active TSS	Right Atrium	heart
33	chr6:79576400-79578400	Active TSS	NHDF-Ad	bronchial
34	chr6:79576400-79578600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:79576400-79578600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:79576400-79578600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:79576400-79578600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:79576400-79578600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:79576400-79578600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:79576400-79578600	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:79576400-79578800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:79576600-79577800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:79576600-79577800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:79576600-79577800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:79576600-79577800	Active TSS	Dnd41	blood
46	chr6:79576600-79578000	Active TSS	Brain Anterior Caudate	brain
47	chr6:79576600-79578000	Active TSS	Thymus	Thymus
48	chr6:79576600-79578000	Active TSS	GM12878-XiMat	blood
49	chr6:79576600-79578000	Active TSS	HSMM	muscle
50	chr6:79576600-79578200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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