Variant report

Variant	rs73528804
Chromosome Location	chr11:71938774-71938775
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71938583-71939139	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:71938673-71939200	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:71938585-71939507	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:71938703-71938858	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:71938386-71939077	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:71938341-71938986	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:71938753-71939688	K562	blood:	n/a	n/a
8	POLR2A	chr11:71938618-71939002	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:71938219-71940039	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:71937771-71939619	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:71937494-71944480	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:71938346-71942335	K562	blood:	n/a	n/a
13	POLR2A	chr11:71938408-71939501	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:71937836-71940183	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:71938439-71939353	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:71938431-71939047	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:71938689-71939636	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:71938423-71939515	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:71938015-71939705	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:71938416-71939799	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:71937645-71939695	K562	blood:	n/a	n/a
22	POLR2A	chr11:71937701-71939876	K562	blood:	n/a	n/a
23	POLR2A	chr11:71938464-71939462	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr11:71938373-71939751	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:71938010-71939754	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:71938396-71939944	K562	blood:	n/a	n/a
27	POLR2A	chr11:71938274-71938972	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:71938702-71939666	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:71822594..71824677-chr11:71937330..71938993,2	MCF-7	breast:
2	chr11:71938045..71940787-chr11:72145330..72147281,2	K562	blood:
3	chr11:71899258..71901849-chr11:71937862..71940065,2	MCF-7	breast:

No data

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000162129	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000110195	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11821309	1.00[EUR][1000 genomes]
rs17162130	1.00[EUR][1000 genomes]
rs17162141	1.00[EUR][1000 genomes]
rs17847215	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2276395	1.00[EUR][1000 genomes]
rs2886351	1.00[EUR][1000 genomes]
rs35340702	1.00[EUR][1000 genomes]
rs4268536	1.00[EUR][1000 genomes]
rs4475949	1.00[EUR][1000 genomes]
rs4488227	1.00[EUR][1000 genomes]
rs57431438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57824428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730042	1.00[EUR][1000 genomes]
rs73545636	1.00[AMR][1000 genomes];1.00[EUR][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 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	chr11:71937000-71938800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:71937000-71938800	Enhancers	Fetal Heart	heart
3	chr11:71937000-71938800	Enhancers	Fetal Thymus	thymus
4	chr11:71937000-71939000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr11:71937000-71939000	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:71937000-71939000	Weak transcription	Ovary	ovary
7	chr11:71937000-71939000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:71937000-71939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:71937000-71939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:71937000-71939200	Enhancers	Rectal Smooth Muscle	rectum
11	chr11:71937000-71939200	Genic enhancers	Stomach Smooth Muscle	stomach
12	chr11:71937000-71939200	Enhancers	HMEC	breast
13	chr11:71937000-71939400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:71937000-71939400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:71937000-71939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:71937000-71939400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:71937000-71939400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:71937000-71939400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:71937000-71939400	Genic enhancers	Fetal Stomach	stomach
20	chr11:71937000-71939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:71937000-71940000	Weak transcription	NHDF-Ad	bronchial
22	chr11:71937000-71940800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:71937000-71941400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:71937000-71949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
28	chr11:71937200-71938800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:71937200-71939000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:71937200-71939000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:71937200-71939200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:71937200-71939200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:71937200-71939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:71937200-71939200	Genic enhancers	A549	lung
35	chr11:71937200-71939400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:71937200-71939400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:71937200-71939400	Enhancers	Brain Hippocampus Middle	brain
38	chr11:71937200-71939400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:71937200-71939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:71937200-71939600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr11:71937200-71939600	Weak transcription	HUVEC	blood vessel
42	chr11:71937200-71939800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:71937200-71940400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:71937400-71939400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:71937400-71939400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:71937400-71949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:71937400-71950000	Strong transcription	NHLF	lung
48	chr11:71937600-71938800	Flanking Active TSS	HSMMtube	muscle
49	chr11:71937600-71939200	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:71937600-71939200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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