Variant report

Variant	rs2950189
Chromosome Location	chr7:102018225-102018226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10226605	1.00[AMR][1000 genomes]
rs6415337	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	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
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102005000-102036200	Weak transcription	Aorta	Aorta
2	chr7:102005000-102036200	Weak transcription	Small Intestine	intestine
3	chr7:102005200-102022000	Weak transcription	Fetal Brain Male	brain
4	chr7:102005200-102036000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:102005200-102036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:102005400-102020400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:102005400-102021000	Weak transcription	NHDF-Ad	bronchial
8	chr7:102005400-102036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:102005400-102036200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:102005400-102036200	Weak transcription	Psoas Muscle	Psoas
11	chr7:102005600-102021000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:102005600-102022000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:102005800-102023800	Weak transcription	Primary B cells from cord blood	blood
14	chr7:102011000-102020400	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:102012800-102031200	Strong transcription	Fetal Muscle Leg	muscle
16	chr7:102012800-102034600	Strong transcription	Fetal Stomach	stomach
17	chr7:102013600-102035800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:102014200-102021000	Weak transcription	Brain Germinal Matrix	brain
19	chr7:102014600-102022800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:102015200-102020400	Weak transcription	HSMMtube	muscle
21	chr7:102015400-102024000	Weak transcription	Stomach Mucosa	stomach
22	chr7:102015800-102036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:102016000-102020600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:102016200-102022800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:102016200-102023000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:102016400-102028200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:102016800-102018800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:102016800-102029200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:102017000-102018800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:102017000-102018800	Strong transcription	Fetal Brain Female	brain
31	chr7:102017000-102020800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:102017000-102022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:102017000-102022600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:102017000-102022600	Strong transcription	Dnd41	blood
35	chr7:102017000-102027800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:102017200-102018800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr7:102017200-102018800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:102017200-102018800	Strong transcription	Pancreas	Pancrea
39	chr7:102017200-102018800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:102017200-102019000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:102017200-102019000	Strong transcription	Ovary	ovary
42	chr7:102017200-102019200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:102017200-102021000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:102017200-102021600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:102017200-102022400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:102017200-102022400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:102017200-102022600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:102017200-102022600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:102017200-102022600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:102017200-102022800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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