Variant report

Variant	rs1030559
Chromosome Location	chr7:18331404-18331405
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1178312	0.88[YRI][hapmap]
rs12154277	0.86[ASN][1000 genomes]
rs1412909	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1469575	0.87[ASN][1000 genomes]
rs17138874	0.83[ASN][1000 genomes]
rs17138905	0.87[ASN][1000 genomes]
rs28410383	0.85[ASN][1000 genomes]
rs2915398	0.81[AFR][1000 genomes]
rs4142170	0.86[EUR][1000 genomes]
rs6972958	0.86[ASN][1000 genomes]
rs6973137	0.86[ASN][1000 genomes]
rs752545	0.91[ASW][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv887811	chr7:18295790-18346230	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18327200-18332000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:18328600-18332200	Enhancers	Fetal Heart	heart
3	chr7:18329200-18331600	Enhancers	Small Intestine	intestine
4	chr7:18329400-18332600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:18329400-18332600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:18329400-18333400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:18329600-18332600	Active TSS	Adipose Nuclei	Adipose
8	chr7:18329800-18331600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:18329800-18331600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:18330000-18331800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:18330000-18332200	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:18330400-18331800	Enhancers	Fetal Thymus	thymus
13	chr7:18330400-18332000	Active TSS	Fetal Muscle Leg	muscle
14	chr7:18330800-18331800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr7:18330800-18332400	Weak transcription	Right Atrium	heart
16	chr7:18330800-18332800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:18330800-18334200	Weak transcription	Right Ventricle	heart
18	chr7:18331000-18331600	Enhancers	Spleen	Spleen
19	chr7:18331000-18331600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:18331000-18333000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:18331000-18333000	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:18331200-18332000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:18331400-18331600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:18331400-18331600	ZNF genes & repeats	Aorta	Aorta
25	chr7:18331400-18331800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:18331400-18332000	Enhancers	Thymus	Thymus
27	chr7:18331400-18332200	Weak transcription	Colon Smooth Muscle	Colon

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