Variant report

Variant	rs11155750
Chromosome Location	chr6:151038855-151038856
allele	A/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	EP300	chr6:151038538-151038895	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr6:151038533-151038922	HepG2	liver:	n/a	n/a
3	FOXA1	chr6:151038603-151038924	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:151038633-151038922	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr6:151038642-151038957	HepG2	liver:	n/a	n/a
6	ELF1	chr6:151038668-151038987	HepG2	liver:	n/a	chr6:151038796-151038807
7	FOXA2	chr6:151038668-151038897	HepG2	liver:	n/a	n/a
8	ELF1	chr6:151038585-151038996	MCF-7	breast:	n/a	chr6:151038796-151038807
9	CEBPB	chr6:151038521-151038989	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr6:151038545-151039023	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr6:151038393-151039115	ECC-1	luminal epithelium:	n/a	n/a
12	FOXA1	chr6:151038626-151038907	HepG2	liver:	n/a	n/a
13	TCF12	chr6:151038357-151039123	ECC-1	luminal epithelium:	n/a	n/a
14	FOXA1	chr6:151038556-151038969	HepG2	liver:	n/a	n/a
15	TCF12	chr6:151038595-151038860	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr6:151038535-151039030	MCF-7	breast:	n/a	chr6:151038796-151038807
17	CEBPB	chr6:151038598-151038955	ECC-1	luminal epithelium:	n/a	n/a
18	TEAD4	chr6:151038581-151038948	H1-hESC	embryonic stem cell:	n/a	chr6:151038786-151038795
19	CEBPB	chr6:151038574-151039060	MCF-7	breast:	n/a	n/a
20	TEAD4	chr6:151038526-151039054	ECC-1	luminal epithelium:	n/a	chr6:151038786-151038795
21	BHLHE40	chr6:151038684-151038911	HepG2	liver:	n/a	n/a
22	CEBPB	chr6:151038591-151038943	MCF-7	breast:	n/a	n/a
23	FOXA1	chr6:151038697-151038947	T-47D	breast:	n/a	n/a
24	ELF1	chr6:151038695-151038888	HepG2	liver:	n/a	chr6:151038796-151038807
25	TEAD4	chr6:151038573-151038994	H1-hESC	embryonic stem cell:	n/a	chr6:151038786-151038795

No.	Distal block	Cell Line	Cell type
1	chr6:151037443..151040064-chr6:151041020..151043133,2	MCF-7	breast:
2	chr6:151032065..151034026-chr6:151038847..151040382,2	K562	blood:
3	chr6:151031833..151034692-chr6:151036440..151039323,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHG1	TF binding region
ENSG00000120278	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12717191	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2035986	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2279629	0.85[CEU][hapmap]
rs4449641	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4628109	0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7761077	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9371194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9383542	0.92[MEX][hapmap]

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	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151021600-151040600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:151026800-151043600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:151029400-151041800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:151033600-151040200	Weak transcription	Fetal Stomach	stomach
5	chr6:151033600-151042000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:151033600-151050200	Weak transcription	Lung	lung
7	chr6:151034000-151040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:151034200-151040600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:151034200-151041800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:151034200-151042000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:151034400-151041000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:151034400-151041200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:151034400-151042000	Weak transcription	Brain Germinal Matrix	brain
14	chr6:151034800-151040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:151034800-151040800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:151034800-151040800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:151035000-151040200	Weak transcription	Spleen	Spleen
18	chr6:151035000-151040800	Weak transcription	Fetal Brain Female	brain
19	chr6:151035000-151066400	Weak transcription	Right Ventricle	heart
20	chr6:151035400-151042000	Weak transcription	Right Atrium	heart
21	chr6:151035600-151040200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:151035600-151040200	Weak transcription	Fetal Lung	lung
23	chr6:151035600-151041200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:151035800-151040400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:151035800-151041400	Weak transcription	Fetal Kidney	kidney
26	chr6:151035800-151042000	Weak transcription	Brain Anterior Caudate	brain
27	chr6:151035800-151042000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:151035800-151042000	Weak transcription	Brain Substantia Nigra	brain
29	chr6:151036000-151039600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:151036000-151040200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:151036000-151041200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:151036200-151041400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:151037600-151039200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:151037600-151041000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:151037800-151039200	Enhancers	Placenta	Placenta
36	chr6:151037800-151042200	Weak transcription	Fetal Intestine Large	intestine
37	chr6:151038000-151039600	Enhancers	Thymus	Thymus
38	chr6:151038200-151039000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:151038200-151039200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:151038200-151042000	Weak transcription	Small Intestine	intestine
41	chr6:151038400-151039000	Enhancers	Stomach Mucosa	stomach
42	chr6:151038400-151040600	Weak transcription	Primary B cells from cord blood	blood
43	chr6:151038600-151039000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:151038600-151039000	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:151038600-151039000	Enhancers	Gastric	stomach
46	chr6:151038600-151039000	Enhancers	HepG2	liver
47	chr6:151038600-151039400	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:151038800-151040200	Weak transcription	Fetal Thymus	thymus
49	chr6:151038800-151040600	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:151038800-151042200	Weak transcription	Esophagus	oesophagus

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