Variant report

Variant	rs73303383
Chromosome Location	chr7:4758381-4758382
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4756833..4759526-chr7:4763472..4765275,2	MCF-7	breast:
2	chr7:4757907..4759766-chr7:4760411..4762104,2	MCF-7	breast:
3	chr7:4752847..4756783-chr7:4756924..4763457,6	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4607503	1.00[AMR][1000 genomes]
rs59325270	1.00[AMR][1000 genomes]
rs60440111	1.00[AMR][1000 genomes]
rs73303369	1.00[EUR][1000 genomes]
rs73303373	1.00[AMR][1000 genomes]
rs73303376	1.00[AMR][1000 genomes]
rs73303392	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4730800-4761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
5	chr7:4751600-4761800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:4752800-4763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
8	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
9	chr7:4753000-4763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:4753200-4762000	Weak transcription	A549	lung
11	chr7:4753400-4759600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:4753400-4761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:4753400-4761800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:4753400-4774800	Weak transcription	K562	blood
15	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
16	chr7:4754200-4763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:4754400-4758600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:4754400-4763600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:4755000-4758400	Strong transcription	Fetal Thymus	thymus
20	chr7:4755200-4761600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:4755200-4764000	Weak transcription	Brain Germinal Matrix	brain
22	chr7:4755200-4764200	Weak transcription	HSMM	muscle
23	chr7:4755400-4764200	Weak transcription	NHEK	skin
24	chr7:4755600-4760800	Weak transcription	NHDF-Ad	bronchial
25	chr7:4755600-4761600	Weak transcription	NH-A	brain
26	chr7:4755600-4762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:4755600-4764200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:4755600-4764200	Weak transcription	Stomach Mucosa	stomach
29	chr7:4755800-4759000	Strong transcription	Fetal Stomach	stomach
30	chr7:4755800-4762200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:4755800-4762200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:4755800-4762600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:4756200-4760800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:4756200-4760800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:4756400-4760200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:4756400-4760600	Weak transcription	Psoas Muscle	Psoas
37	chr7:4756400-4761800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:4756400-4762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:4756400-4762800	Weak transcription	Fetal Lung	lung
40	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:4756600-4758400	Enhancers	Right Atrium	heart
42	chr7:4756600-4760400	Strong transcription	Primary T cells from cord blood	blood
43	chr7:4756800-4758400	Strong transcription	Primary B cells from cord blood	blood
44	chr7:4756800-4758800	Strong transcription	Thymus	Thymus
45	chr7:4757000-4758400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:4757000-4758600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:4757000-4760200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:4757000-4761800	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:4757000-4762000	Weak transcription	Brain Substantia Nigra	brain
50	chr7:4757200-4758400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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