Variant report

Variant	rs73504713
Chromosome Location	chr11:77334894-77334895
allele	C/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	POLR2A	chr11:77334707-77334943	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77334640..77336482-chr11:77348463..77350092,2	MCF-7	breast:

Variant related genes	Relation type
CLNS1A	TF binding region
ENSG00000074201	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs35216705	1.00[AMR][1000 genomes]
rs56709311	1.00[AMR][1000 genomes]
rs57008614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57544945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58758035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59231807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59293034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60695213	1.00[AMR][1000 genomes]
rs60704733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61186004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493811	1.00[AFR][1000 genomes]
rs73493813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493884	1.00[AMR][1000 genomes]
rs73495954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498845	1.00[AMR][1000 genomes]
rs73498851	1.00[AMR][1000 genomes]
rs73498854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500705	1.00[AMR][1000 genomes]
rs73500729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500756	1.00[AMR][1000 genomes]
rs73500773	1.00[AMR][1000 genomes]
rs73504718	1.00[AMR][1000 genomes]
rs73504734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504744	1.00[AMR][1000 genomes]
rs73504765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506724	1.00[AMR][1000 genomes]
rs73506730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508738	1.00[AFR][1000 genomes]
rs73508749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77301400-77346000	Weak transcription	Small Intestine	intestine
2	chr11:77301800-77345800	Weak transcription	Spleen	Spleen
3	chr11:77313000-77345200	Weak transcription	Gastric	stomach
4	chr11:77313000-77347400	Weak transcription	Colonic Mucosa	Colon
5	chr11:77314000-77345800	Weak transcription	Pancreas	Pancrea
6	chr11:77314000-77347400	Weak transcription	Fetal Heart	heart
7	chr11:77315000-77341800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:77315200-77341400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr11:77315600-77341000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:77316400-77338400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:77316400-77341400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:77316400-77346800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:77316600-77337200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:77316600-77344200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:77316600-77347000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:77317000-77337400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:77317200-77336800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:77317200-77337400	Strong transcription	Fetal Thymus	thymus
19	chr11:77317400-77340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:77317400-77340400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:77317600-77337600	Strong transcription	Dnd41	blood
22	chr11:77318000-77337000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:77321000-77347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:77321600-77337200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:77322000-77341000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:77322400-77340200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:77323400-77348000	Weak transcription	Aorta	Aorta
28	chr11:77323600-77347200	Weak transcription	Fetal Brain Male	brain
29	chr11:77323800-77341400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:77325400-77337200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:77325800-77335200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:77326000-77340400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:77326600-77347200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:77327400-77340800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:77327600-77341000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:77328000-77336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:77328200-77347200	Weak transcription	Psoas Muscle	Psoas
38	chr11:77329200-77337400	Strong transcription	Primary T cells from cord blood	blood
39	chr11:77329400-77337600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:77329600-77336800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:77330000-77336800	Strong transcription	Fetal Lung	lung
42	chr11:77330000-77336800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:77330000-77337200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:77330000-77337200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:77330200-77339400	Strong transcription	Fetal Stomach	stomach
46	chr11:77330200-77340400	Strong transcription	Fetal Muscle Leg	muscle
47	chr11:77330200-77341400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:77330200-77347400	Weak transcription	Brain Substantia Nigra	brain
49	chr11:77330400-77336200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:77330400-77347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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