Variant report

Variant	rs4313075
Chromosome Location	chr7:7724932-7724933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1012996	0.90[ASN][1000 genomes]
rs1012997	0.83[ASN][1000 genomes]
rs10227168	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227236	0.87[ASN][1000 genomes]
rs10229371	0.84[AFR][1000 genomes]
rs10240471	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246966	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257718	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10262410	0.89[AFR][1000 genomes]
rs10277292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278708	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12111719	0.80[ASN][1000 genomes]
rs12702634	0.83[ASN][1000 genomes]
rs13221027	0.90[ASN][1000 genomes]
rs13231388	0.84[ASN][1000 genomes]
rs13234728	0.90[AFR][1000 genomes]
rs13242539	0.87[ASN][1000 genomes]
rs1544456	0.83[ASN][1000 genomes]
rs1557997	0.90[ASN][1000 genomes]
rs1557998	0.90[ASN][1000 genomes]
rs2107999	0.89[ASN][1000 genomes]
rs2108000	0.90[ASN][1000 genomes]
rs2108003	0.88[AFR][1000 genomes]
rs28912673	0.84[ASN][1000 genomes]
rs35375940	0.87[ASN][1000 genomes]
rs4140804	0.80[AFR][1000 genomes]
rs4140805	0.91[AFR][1000 genomes]
rs62432601	0.87[ASN][1000 genomes]
rs6944960	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6947203	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966464	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717841	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7781054	0.90[ASN][1000 genomes]
rs7800702	0.83[ASN][1000 genomes]
rs7800719	0.90[ASN][1000 genomes]
rs7800853	0.83[ASN][1000 genomes]
rs7804775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9648616	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887484	chr7:7692483-7769363	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606045	chr7:7704889-7755491	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv887486	chr7:7712498-7785047	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
2	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:7706800-7743200	Weak transcription	Gastric	stomach
4	chr7:7708600-7738600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:7711600-7726400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:7715800-7726400	Weak transcription	Aorta	Aorta
7	chr7:7715800-7728800	Weak transcription	Right Ventricle	heart
8	chr7:7715800-7736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:7716000-7726400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:7716000-7727000	Weak transcription	Left Ventricle	heart
11	chr7:7716000-7733400	Weak transcription	Esophagus	oesophagus
12	chr7:7716000-7735200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:7716000-7738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:7717800-7749000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:7718000-7727800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:7718000-7731400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:7721200-7726200	Weak transcription	K562	blood
18	chr7:7721200-7727600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:7721200-7734800	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:7721400-7726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:7721400-7733000	Weak transcription	Osteobl	bone
22	chr7:7721600-7726200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:7721600-7726400	Weak transcription	Fetal Lung	lung
24	chr7:7721600-7726800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:7721600-7731800	Weak transcription	A549	lung
26	chr7:7721600-7733400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:7721600-7748800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:7721800-7725800	Weak transcription	Fetal Heart	heart
29	chr7:7721800-7726200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:7721800-7726200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:7721800-7726800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:7721800-7726800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:7721800-7727600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:7721800-7727600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:7721800-7727600	Weak transcription	Stomach Mucosa	stomach
36	chr7:7721800-7728800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:7721800-7728800	Weak transcription	HSMM	muscle
38	chr7:7721800-7734400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:7721800-7737000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:7722000-7725800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:7722000-7750600	Weak transcription	Primary B cells from cord blood	blood
42	chr7:7722600-7744400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:7722600-7745600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:7722800-7725800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:7722800-7726200	Weak transcription	Brain Substantia Nigra	brain
46	chr7:7722800-7726600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:7722800-7726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:7722800-7726800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:7722800-7726800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:7722800-7733600	Weak transcription	Hela-S3	cervix

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