Variant report

Variant	rs2430070
Chromosome Location	chr7:102420805-102420806
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10228495	0.88[YRI][hapmap]
rs10271184	0.81[YRI][hapmap]
rs10279449	0.81[YRI][hapmap]
rs1541519	0.81[YRI][hapmap]
rs2411046	0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6979964	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6980434	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800548	0.82[YRI][hapmap]

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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
3	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic 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	42 gene(s)	inside rSNPs	diseases
5	nsv1031471	chr7:102238120-102429404	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
6	nsv469620	chr7:102296392-102454063	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv482714	chr7:102296392-102454063	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv970564	chr7:102397635-102440049	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102390000-102421000	Weak transcription	Lung	lung
2	chr7:102390000-102434400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:102390200-102432000	Weak transcription	Left Ventricle	heart
4	chr7:102390400-102421000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:102390400-102421200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:102390600-102421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:102390600-102421000	Weak transcription	Thymus	Thymus
8	chr7:102390600-102421200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:102390600-102422600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:102390800-102421200	Weak transcription	Brain Germinal Matrix	brain
11	chr7:102390800-102421200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:102390800-102448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:102391000-102421000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:102391000-102421200	Weak transcription	Fetal Thymus	thymus
15	chr7:102391000-102424800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:102391000-102435400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:102391600-102448600	Weak transcription	Adipose Nuclei	Adipose
18	chr7:102395400-102421000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:102396800-102421000	Weak transcription	Fetal Intestine Small	intestine
20	chr7:102401600-102424000	Weak transcription	Primary T cells from cord blood	blood
21	chr7:102402800-102421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:102403000-102421200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:102403200-102421200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:102404400-102421000	Weak transcription	Fetal Lung	lung
25	chr7:102404400-102421000	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:102404400-102432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:102404600-102421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:102406000-102428600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:102409200-102421000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:102410600-102430800	Weak transcription	HepG2	liver
31	chr7:102416400-102467600	Weak transcription	Brain Anterior Caudate	brain
32	chr7:102417000-102428400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:102417200-102421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:102417800-102431800	Weak transcription	A549	lung
35	chr7:102418400-102421200	Weak transcription	Fetal Stomach	stomach
36	chr7:102418600-102421000	Weak transcription	Ovary	ovary
37	chr7:102418600-102421400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:102418800-102421200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:102418800-102421800	Weak transcription	HUVEC	blood vessel
40	chr7:102418800-102430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:102419200-102421000	Weak transcription	Pancreas	Pancrea
42	chr7:102419200-102421200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:102419200-102421200	Weak transcription	Gastric	stomach
44	chr7:102419200-102421400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:102419400-102421000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:102419400-102421000	Weak transcription	Right Ventricle	heart
47	chr7:102419600-102421200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:102419600-102421200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:102419600-102423000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:102419600-102454200	Weak transcription	Osteobl	bone

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