Variant report

Variant	rs11759926
Chromosome Location	chr6:131571269-131571270
allele	G/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	CTCF	chr6:131571260-131571410	AG10803	skin:	n/a	n/a
2	MYC	chr6:131571244-131571660	NB4	blood:	n/a	chr6:131571384-131571394
3	GTF2F1	chr6:131571104-131571480	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:131571220-131571370	HMF	breast:	n/a	n/a
5	POLR2A	chr6:131571120-131571946	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr6:131571243-131571826	SK-N-MC	brain:	n/a	n/a
7	CTCF	chr6:131571240-131571390	AoAF	blood vessel:	n/a	n/a
8	SPI1	chr6:131571010-131571714	HL-60	blood:	n/a	chr6:131571238-131571245
9	CTCF	chr6:131571260-131571410	HPF	lung:	n/a	n/a
10	MAX	chr6:131571060-131571671	NB4	blood:	n/a	chr6:131571384-131571394
11	CTCF	chr6:131571260-131571410	SAEC	small airway:	n/a	n/a
12	CTCF	chr6:131571200-131571350	HMF	breast:	n/a	n/a
13	CTCF	chr6:131571260-131571410	HRPEpiC	eye:	n/a	n/a

Variant related genes	Relation type
AKAP7	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10484763	0.94[EUR][1000 genomes]
rs11154621	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154622	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754401	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755717	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758994	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759793	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1190805	0.84[ASN][1000 genomes]
rs1190806	0.84[ASN][1000 genomes]
rs11961577	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317667	1.00[ASN][1000 genomes]
rs13195700	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200165	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13205441	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206776	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570348	1.00[ASN][1000 genomes]
rs17573187	1.00[ASN][1000 genomes]
rs17651753	1.00[ASN][1000 genomes]
rs1885641	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077490	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327102	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360555	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326915	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34601891	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34699635	0.90[EUR][1000 genomes]
rs35017713	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35561719	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35673664	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35746376	1.00[ASN][1000 genomes]
rs3777476	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777477	0.87[EUR][1000 genomes]
rs3777487	1.00[ASN][1000 genomes]
rs3777489	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777493	1.00[ASN][1000 genomes]
rs3850239	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903759	0.84[ASN][1000 genomes]
rs4310080	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424112	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4596509	0.91[EUR][1000 genomes]
rs55893652	0.92[ASN][1000 genomes]
rs56059672	0.92[ASN][1000 genomes]
rs66533103	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67021539	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67399092	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749375	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743894	1.00[ASN][1000 genomes]
rs9483238	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492861	0.84[ASN][1000 genomes]
rs9492864	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492868	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492869	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492874	0.83[EUR][1000 genomes]
rs9492877	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492880	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492883	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv886665	chr6:131518894-131611309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv1835599	chr6:131554291-131590766	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131562600-131571400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:131563000-131580000	Weak transcription	Small Intestine	intestine
3	chr6:131565600-131571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:131565800-131571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:131565800-131571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:131565800-131571400	Weak transcription	NHEK	skin
7	chr6:131566800-131576200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:131567200-131576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:131569200-131571400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:131570600-131571400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:131570800-131571400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:131571000-131571400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:131571000-131571400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:131571000-131571400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:131571000-131571400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:131571000-131571400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:131571000-131571400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:131571000-131571400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr6:131571000-131571400	Enhancers	NHDF-Ad	bronchial
20	chr6:131571000-131571600	Enhancers	Fetal Heart	heart
21	chr6:131571000-131571800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:131571000-131572000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:131571000-131572000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:131571000-131572000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr6:131571000-131572200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:131571000-131572400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:131571000-131572400	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:131571000-131573600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:131571000-131573600	Active TSS	Duodenum Mucosa	Duodenum
30	chr6:131571000-131573800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:131571000-131574000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:131571000-131574400	Active TSS	Brain Germinal Matrix	brain
33	chr6:131571000-131574400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr6:131571000-131574400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:131571000-131574400	Active TSS	Fetal Intestine Large	intestine
36	chr6:131571200-131571400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:131571200-131571400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:131571200-131571400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:131571200-131571400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:131571200-131571400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:131571200-131571400	Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:131571200-131571400	Active TSS	Liver	Liver
43	chr6:131571200-131571400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr6:131571200-131571400	Bivalent Enhancer	GM12878-XiMat	blood
45	chr6:131571200-131571400	Active TSS	HSMM	muscle
46	chr6:131571200-131571400	Enhancers	HSMMtube	muscle
47	chr6:131571200-131571600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:131571200-131571600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:131571200-131571600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:131571200-131571600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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