Variant report

Variant	rs73305354
Chromosome Location	chr7:4806000-4806001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4804152..4806757-chr7:4863293..4865988,2	K562	blood:
2	chr7:4799859..4801528-chr7:4805403..4807686,2	K562	blood:
3	chr7:4803747..4806445-chr7:4817693..4820028,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10226141	1.00[EUR][1000 genomes]
rs10266195	1.00[EUR][1000 genomes]
rs58317459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59177795	1.00[AMR][1000 genomes]
rs6463033	1.00[EUR][1000 genomes]
rs73305332	1.00[AMR][1000 genomes]
rs73305335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305338	1.00[EUR][1000 genomes]
rs73305347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305386	1.00[EUR][1000 genomes]
rs73312637	1.00[EUR][1000 genomes]
rs73314475	1.00[AMR][1000 genomes]
rs7341401	1.00[EUR][1000 genomes]
rs7810183	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	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
12	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	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

No data

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4785200-4814200	Weak transcription	Fetal Brain Male	brain
2	chr7:4785600-4814400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4786400-4808400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:4786600-4809000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:4786800-4807400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:4787000-4807600	Strong transcription	Dnd41	blood
7	chr7:4787600-4812400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:4788200-4808200	Weak transcription	Fetal Heart	heart
9	chr7:4788200-4812400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:4788400-4808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:4788400-4813800	Weak transcription	Right Atrium	heart
12	chr7:4789600-4814400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:4790400-4807200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:4791200-4808000	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:4791800-4809000	Strong transcription	NHLF	lung
16	chr7:4792000-4808200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:4792400-4807600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:4793200-4808800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:4793400-4807400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:4793400-4807600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:4793600-4807600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:4793600-4807800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr7:4793800-4807000	Strong transcription	Lung	lung
24	chr7:4793800-4807400	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr7:4793800-4809000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:4794000-4806000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr7:4794000-4806800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:4794000-4806800	Strong transcription	Fetal Intestine Small	intestine
29	chr7:4794000-4807400	Strong transcription	Primary T cells from cord blood	blood
30	chr7:4794000-4807400	Strong transcription	Spleen	Spleen
31	chr7:4794000-4807600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:4794000-4807600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:4794000-4807600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr7:4794000-4807600	Strong transcription	Placenta	Placenta
35	chr7:4794000-4807800	Strong transcription	Brain Hippocampus Middle	brain
36	chr7:4794000-4808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:4794000-4808600	Strong transcription	Fetal Brain Female	brain
38	chr7:4794000-4809000	Strong transcription	Liver	Liver
39	chr7:4794200-4806000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:4794200-4806000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:4794200-4806000	Strong transcription	Pancreas	Pancrea
42	chr7:4794200-4807200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:4794200-4807200	Strong transcription	Left Ventricle	heart
44	chr7:4794200-4807600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:4794200-4807600	Strong transcription	Adipose Nuclei	Adipose
46	chr7:4794200-4807600	Strong transcription	Brain Angular Gyrus	brain
47	chr7:4794200-4809000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:4794200-4814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:4794400-4808200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:4794400-4808600	Strong transcription	Brain Inferior Temporal Lobe	brain

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