Variant report

Variant	rs56191740
Chromosome Location	chr7:4921689-4921690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4920954..4923771-chr7:5084405..5086180,2	K562	blood:

Variant related genes	Relation type
ENSG00000272968	Chromatin interaction
ENSG00000146587	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10231328	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235512	0.81[ASN][1000 genomes]
rs10239532	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10252203	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263060	0.97[ASN][1000 genomes]
rs10267750	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270741	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10276265	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281904	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980159	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437860	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135264	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28652622	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56059415	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59097134	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708223	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60788806	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61035031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61466667	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966243	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73318113	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73318125	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73318140	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7794335	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
21	nsv971151	chr7:4915196-4928162	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4905200-4921800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:4912200-4921800	Weak transcription	K562	blood
3	chr7:4915400-4921800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:4917200-4921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:4920400-4921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:4920600-4921800	Weak transcription	Lung	lung
7	chr7:4921400-4921800	Flanking Active TSS	Fetal Muscle Trunk	muscle
8	chr7:4921400-4922000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4921400-4922000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:4921400-4922200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr7:4921400-4922400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:4921400-4922400	Flanking Active TSS	Fetal Stomach	stomach
13	chr7:4921400-4922600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:4921400-4922600	Flanking Active TSS	Fetal Lung	lung
15	chr7:4921400-4923400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:4921400-4923400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:4921400-4923400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:4921400-4923400	Active TSS	Right Atrium	heart
19	chr7:4921600-4921800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr7:4921600-4921800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr7:4921600-4921800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:4921600-4921800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:4921600-4921800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr7:4921600-4921800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:4921600-4921800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:4921600-4921800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr7:4921600-4921800	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:4921600-4921800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:4921600-4921800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr7:4921600-4921800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr7:4921600-4921800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:4921600-4921800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:4921600-4921800	Active TSS	Brain Substantia Nigra	brain
34	chr7:4921600-4921800	Flanking Active TSS	Fetal Heart	heart
35	chr7:4921600-4921800	Flanking Active TSS	Ovary	ovary
36	chr7:4921600-4921800	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:4921600-4921800	Active TSS	Right Ventricle	heart
38	chr7:4921600-4921800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:4921600-4921800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr7:4921600-4921800	Enhancers	HSMM	muscle
41	chr7:4921600-4921800	Enhancers	HUVEC	blood vessel
42	chr7:4921600-4921800	Enhancers	NH-A	brain
43	chr7:4921600-4921800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr7:4921600-4922000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:4921600-4922000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:4921600-4922000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:4921600-4922000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:4921600-4922200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
49	chr7:4921600-4922200	Active TSS	Brain Germinal Matrix	brain
50	chr7:4921600-4922200	Flanking Active TSS	Fetal Brain Male	brain

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