Variant report

Variant	rs2960243
Chromosome Location	chr7:102009204-102009205
allele	C/T
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:4)

rs_ID	r²[population]
rs2960244	0.82[ASN][1000 genomes]
rs55989026	0.82[ASN][1000 genomes]
rs59052694	0.81[AMR][1000 genomes]
rs7385881	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102005000-102017200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:102005000-102017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:102005000-102017600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:102005000-102036200	Weak transcription	Aorta	Aorta
5	chr7:102005000-102036200	Weak transcription	Small Intestine	intestine
6	chr7:102005200-102017200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:102005200-102017400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:102005200-102017400	Weak transcription	Primary T cells from cord blood	blood
9	chr7:102005200-102017400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:102005200-102017400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:102005200-102017600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:102005200-102017600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:102005200-102017600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:102005200-102017600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:102005200-102017600	Weak transcription	Lung	lung
16	chr7:102005200-102022000	Weak transcription	Fetal Brain Male	brain
17	chr7:102005200-102036000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:102005200-102036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:102005400-102012800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:102005400-102014400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:102005400-102014800	Weak transcription	HSMMtube	muscle
22	chr7:102005400-102016800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:102005400-102017200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:102005400-102017200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:102005400-102017200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:102005400-102017200	Weak transcription	Left Ventricle	heart
27	chr7:102005400-102017200	Weak transcription	Ovary	ovary
28	chr7:102005400-102017200	Weak transcription	Pancreas	Pancrea
29	chr7:102005400-102017400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:102005400-102017400	Weak transcription	Liver	Liver
31	chr7:102005400-102017400	Weak transcription	Brain Anterior Caudate	brain
32	chr7:102005400-102017400	Weak transcription	Fetal Kidney	kidney
33	chr7:102005400-102017600	Weak transcription	Esophagus	oesophagus
34	chr7:102005400-102017600	Weak transcription	Fetal Lung	lung
35	chr7:102005400-102017600	Weak transcription	Placenta	Placenta
36	chr7:102005400-102017600	Weak transcription	Gastric	stomach
37	chr7:102005400-102017600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:102005400-102017600	Weak transcription	Right Ventricle	heart
39	chr7:102005400-102017600	Weak transcription	Thymus	Thymus
40	chr7:102005400-102017600	Weak transcription	NH-A	brain
41	chr7:102005400-102017600	Weak transcription	NHLF	lung
42	chr7:102005400-102018000	Weak transcription	NHEK	skin
43	chr7:102005400-102020400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:102005400-102021000	Weak transcription	NHDF-Ad	bronchial
45	chr7:102005400-102036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:102005400-102036200	Weak transcription	Brain Angular Gyrus	brain
47	chr7:102005400-102036200	Weak transcription	Psoas Muscle	Psoas
48	chr7:102005600-102017000	Weak transcription	Fetal Brain Female	brain
49	chr7:102005600-102017200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:102005600-102017400	Weak transcription	Muscle Satellite Cultured Cells	--

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