Variant report

Variant	rs73303392
Chromosome Location	chr7:4762330-4762331
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4759871..4762762-chr7:4764322..4767254,4	MCF-7	breast:
2	chr7:4760865..4762591-chr7:4767283..4769711,2	MCF-7	breast:
3	chr7:4731749..4733486-chr7:4760539..4762564,2	MCF-7	breast:
4	chr7:4760787..4762852-chr7:4770341..4773227,2	MCF-7	breast:
5	chr7:4753897..4755889-chr7:4760582..4763452,2	MCF-7	breast:
6	chr7:4760930..4762587-chr7:4814124..4816927,2	MCF-7	breast:
7	chr7:4744293..4746103-chr7:4760700..4762874,2	K562	blood:
8	chr7:4752847..4756783-chr7:4756924..4763457,6	MCF-7	breast:
9	chr7:4753274..4754923-chr7:4760587..4763263,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4607503	1.00[AMR][1000 genomes]
rs57323934	0.89[AFR][1000 genomes]
rs59325270	1.00[AMR][1000 genomes]
rs60440111	1.00[AMR][1000 genomes]
rs6947096	0.92[AFR][1000 genomes]
rs73303373	1.00[AMR][1000 genomes]
rs73303376	1.00[AMR][1000 genomes]
rs73303383	1.00[AMR][1000 genomes]
rs73305304	0.92[AFR][1000 genomes]
rs73305322	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
4	chr7:4752800-4763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
6	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
7	chr7:4753000-4763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:4753400-4774800	Weak transcription	K562	blood
9	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
10	chr7:4754200-4763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:4754400-4763600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:4755200-4764000	Weak transcription	Brain Germinal Matrix	brain
13	chr7:4755200-4764200	Weak transcription	HSMM	muscle
14	chr7:4755400-4764200	Weak transcription	NHEK	skin
15	chr7:4755600-4764200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:4755600-4764200	Weak transcription	Stomach Mucosa	stomach
17	chr7:4755800-4762600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:4756400-4762800	Weak transcription	Fetal Lung	lung
19	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:4757400-4762400	Weak transcription	Brain Anterior Caudate	brain
22	chr7:4757400-4764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:4758000-4762800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:4758000-4764200	Weak transcription	Aorta	Aorta
25	chr7:4758200-4763000	Weak transcription	Osteobl	bone
26	chr7:4758200-4764200	Weak transcription	Fetal Brain Female	brain
27	chr7:4758400-4763000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:4758400-4763000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:4758400-4764000	Weak transcription	Liver	Liver
30	chr7:4758400-4764200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:4758400-4764200	Weak transcription	Hela-S3	cervix
32	chr7:4758400-4764200	Weak transcription	HMEC	breast
33	chr7:4759400-4763000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:4759400-4763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:4759600-4762800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:4760000-4763600	Strong transcription	Dnd41	blood
37	chr7:4760000-4764400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:4760200-4764400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:4760400-4763400	Genic enhancers	Fetal Muscle Leg	muscle
40	chr7:4760600-4762600	Genic enhancers	GM12878-XiMat	blood
41	chr7:4760800-4762400	Strong transcription	Fetal Stomach	stomach
42	chr7:4760800-4762400	Strong transcription	NHLF	lung
43	chr7:4760800-4762800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr7:4760800-4762800	Enhancers	NHDF-Ad	bronchial
45	chr7:4760800-4763000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:4760800-4763800	Strong transcription	Thymus	Thymus
47	chr7:4760800-4764000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:4761000-4762400	Weak transcription	Psoas Muscle	Psoas
49	chr7:4761000-4763600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:4761200-4763800	Genic enhancers	Fetal Muscle Trunk	muscle

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