Variant report

Variant	rs56705397
Chromosome Location	chr11:66617727-66617728
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	POLR2A	chr11:66609194-66617823	K562	blood:	n/a	n/a
2	POLR2A	chr11:66617436-66618052	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr11:66615772-66617821	K562	blood:	n/a	n/a
4	POLR2A	chr11:66617303-66618518	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:66617292-66617965	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:66614895-66617821	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:66610460-66617814	K562	blood:	n/a	n/a
8	POLR2A	chr11:66617529-66617925	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:66615868-66618676	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:66615671-66618685	A549	lung:	n/a	n/a
11	POLR2A	chr11:66614765-66618208	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66384888..66387005-chr11:66616259..66619133,2	MCF-7	breast:

Variant related genes	Relation type
PC	TF binding region
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11538048	1.00[AMR][1000 genomes]
rs55962689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56049904	1.00[AMR][1000 genomes]
rs56194916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56728386	1.00[AMR][1000 genomes]
rs56790408	1.00[AMR][1000 genomes]
rs57237794	1.00[AMR][1000 genomes]
rs57241231	1.00[AMR][1000 genomes]
rs57508396	1.00[AMR][1000 genomes]
rs57550064	1.00[AMR][1000 genomes]
rs57630565	1.00[AMR][1000 genomes]
rs58201175	1.00[AMR][1000 genomes]
rs59663951	1.00[AMR][1000 genomes]
rs59868470	1.00[AMR][1000 genomes]
rs60523317	1.00[AMR][1000 genomes]
rs61675228	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv897795	chr11:66608521-66637926	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66612000-66623000	Weak transcription	Psoas Muscle	Psoas
2	chr11:66612000-66623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:66612000-66623200	Weak transcription	Right Atrium	heart
4	chr11:66612200-66617800	Strong transcription	Ovary	ovary
5	chr11:66612200-66623000	Weak transcription	Fetal Kidney	kidney
6	chr11:66612200-66623000	Weak transcription	Stomach Mucosa	stomach
7	chr11:66612200-66623000	Weak transcription	HSMM	muscle
8	chr11:66612200-66623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:66612200-66623200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:66612400-66617800	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:66612400-66618000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:66612400-66618000	Strong transcription	Right Ventricle	heart
13	chr11:66612400-66618400	Strong transcription	HepG2	liver
14	chr11:66612400-66623200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:66612400-66623200	Weak transcription	NH-A	brain
16	chr11:66612600-66617800	Strong transcription	Fetal Intestine Large	intestine
17	chr11:66612600-66617800	Strong transcription	Placenta	Placenta
18	chr11:66612600-66618200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:66612600-66618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:66612600-66618400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:66612600-66619400	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:66612600-66619800	Strong transcription	Brain Substantia Nigra	brain
23	chr11:66612600-66620000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:66612600-66620200	Strong transcription	Fetal Intestine Small	intestine
25	chr11:66612600-66620400	Strong transcription	Brain Anterior Caudate	brain
26	chr11:66612600-66620800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:66612800-66618200	Strong transcription	Esophagus	oesophagus
28	chr11:66612800-66618400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:66612800-66620000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:66612800-66620200	Strong transcription	Brain Hippocampus Middle	brain
31	chr11:66612800-66620200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr11:66612800-66620400	Strong transcription	Gastric	stomach
33	chr11:66612800-66620600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr11:66612800-66620800	Strong transcription	Liver	Liver
35	chr11:66612800-66623200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:66613000-66618200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:66613000-66620400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:66613000-66620400	Strong transcription	Fetal Brain Female	brain
39	chr11:66613200-66618800	Strong transcription	Brain Angular Gyrus	brain
40	chr11:66613200-66620200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:66613200-66622400	Weak transcription	Fetal Brain Male	brain
42	chr11:66613400-66620400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:66613400-66623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:66613600-66619000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:66613800-66620600	Strong transcription	Fetal Stomach	stomach
46	chr11:66614000-66619000	Strong transcription	Brain Germinal Matrix	brain
47	chr11:66614200-66620200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:66614200-66622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:66614400-66618600	Strong transcription	NHLF	lung
50	chr11:66614400-66623000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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