Variant report

Variant	rs73305304
Chromosome Location	chr7:4765777-4765778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4750973..4755247-chr7:4763506..4767347,8	MCF-7	breast:
2	chr7:4721561..4725553-chr7:4763080..4767294,4	MCF-7	breast:
3	chr7:4720287..4723602-chr7:4763123..4767792,8	MCF-7	breast:
4	chr7:4762980..4766999-chr7:4782747..4785912,5	MCF-7	breast:
5	chr7:4728262..4730574-chr7:4763731..4766001,2	MCF-7	breast:
6	chr7:4759871..4762762-chr7:4764322..4767254,4	MCF-7	breast:
7	chr7:4680335..4683615-chr7:4763536..4766738,3	MCF-7	breast:
8	chr7:4680348..4683879-chr7:4764377..4769101,7	MCF-7	breast:
9	chr7:4763802..4765803-chr7:4775724..4778098,2	MCF-7	breast:
10	chr7:4762343..4766286-chr7:4781806..4786084,5	MCF-7	breast:
11	chr7:4765455..4768723-chr7:4771595..4773109,3	MCF-7	breast:
12	chr7:4760150..4762017-chr7:4764864..4767459,2	K562	blood:
13	chr7:4747915..4749445-chr7:4764034..4766234,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238781	Chromatin interaction
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11541132	1.00[AMR][1000 genomes]
rs56025211	1.00[AMR][1000 genomes]
rs57323934	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60226766	1.00[AMR][1000 genomes]
rs60814186	1.00[AMR][1000 genomes]
rs61269946	1.00[AMR][1000 genomes]
rs6947096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303367	1.00[AMR][1000 genomes]
rs73303392	0.92[AFR][1000 genomes]
rs73305322	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305327	1.00[AMR][1000 genomes]
rs73305336	1.00[AMR][1000 genomes]
rs73305389	1.00[AMR][1000 genomes]
rs73305393	1.00[AMR][1000 genomes]
rs73310599	1.00[AMR][1000 genomes]
rs73312647	1.00[AMR][1000 genomes]
rs73316110	1.00[AMR][1000 genomes]
rs73318118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	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
8	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	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
10	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS 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 miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4753400-4774800	Weak transcription	K562	blood
2	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:4761800-4768000	Enhancers	Fetal Heart	heart
5	chr7:4764000-4765800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr7:4764000-4765800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:4764000-4766000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:4764000-4766200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr7:4764000-4766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:4764200-4765800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:4764200-4765800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr7:4764200-4765800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr7:4764200-4765800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:4764200-4765800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:4764200-4765800	Flanking Active TSS	HMEC	breast
16	chr7:4764200-4765800	Flanking Active TSS	HUVEC	blood vessel
17	chr7:4764200-4766000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:4764200-4766000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:4764200-4766000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:4764200-4766000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr7:4764200-4766000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:4764200-4766600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr7:4764400-4765800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:4764400-4765800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:4764400-4765800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:4764400-4766200	Strong transcription	Dnd41	blood
27	chr7:4764600-4765800	Active TSS	Osteobl	bone
28	chr7:4764800-4765800	Active TSS	Psoas Muscle	Psoas
29	chr7:4764800-4766000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:4765200-4765800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr7:4765200-4765800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:4765200-4765800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:4765200-4765800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:4765200-4765800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr7:4765200-4765800	Flanking Active TSS	HSMMtube	muscle
36	chr7:4765200-4766000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr7:4765200-4769800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:4765400-4765800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:4765400-4765800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr7:4765400-4765800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:4765400-4765800	Enhancers	Primary B cells from peripheral blood	blood
42	chr7:4765400-4765800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:4765400-4765800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:4765400-4765800	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr7:4765400-4765800	Flanking Active TSS	A549	lung
46	chr7:4765400-4765800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr7:4765400-4766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:4765400-4766000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4765400-4766000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:4765400-4766000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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