Variant report

Variant	rs587705723
Chromosome Location	chr1:144620562-144620563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012104	chr1:144007818-144682096	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
2	nsv1006330	chr1:144007818-144849544	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
3	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
4	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
5	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
6	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
7	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv1002373	chr1:144013582-144682096	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
9	nsv1007748	chr1:144015838-144682096	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
10	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
11	nsv1014641	chr1:144337917-144880405	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
12	nsv998833	chr1:144337917-144885032	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
13	nsv1009682	chr1:144471974-144876884	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
14	nsv1008142	chr1:144471974-144880405	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
15	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 gene(s)	inside rSNPs	diseases
16	nsv872206	chr1:144544101-144881389	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
17	nsv872207	chr1:144560355-144859086	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	nsv872208	chr1:144560355-144875799	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv946242	chr1:144588546-144622111	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1832561	chr1:144590080-144830258	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv1832493	chr1:144598061-144832598	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv872209	chr1:144600291-144881389	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	esv13686	chr1:144610261-144622190	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv1848801	chr1:144612100-144821378	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	esv1817226	chr1:144612100-144823428	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv946742	chr1:144612556-144622111	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
27	esv3413293	chr1:144613595-144622413	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv1827162	chr1:144613727-144707456	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv1847469	chr1:144613727-144836086	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	esv3432201	chr1:144614195-144622413	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv8036	chr1:144615648-144816449	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv872210	chr1:144617179-144924792	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
33	esv9932	chr1:144618045-144622190	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
34	esv1846856	chr1:144620079-144813503	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	esv1816787	chr1:144620079-144830258	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	esv1792955	chr1:144620079-144834745	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144594600-144621200	Weak transcription	Gastric	stomach
2	chr1:144594600-144622000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:144594600-144622000	Weak transcription	Placenta	Placenta
4	chr1:144594800-144620600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:144594800-144621200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:144594800-144621200	Weak transcription	Fetal Lung	lung
7	chr1:144594800-144621200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:144594800-144621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:144594800-144621400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:144594800-144621600	Weak transcription	HSMM	muscle
11	chr1:144594800-144621800	Weak transcription	Brain Germinal Matrix	brain
12	chr1:144594800-144621800	Weak transcription	HSMMtube	muscle
13	chr1:144594800-144622000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:144594800-144622000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:144594800-144623400	Weak transcription	Primary T cells from cord blood	blood
16	chr1:144594800-144623400	Weak transcription	HUVEC	blood vessel
17	chr1:144594800-144624000	Weak transcription	Right Ventricle	heart
18	chr1:144595800-144623200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:144596200-144621400	Weak transcription	Pancreas	Pancrea
20	chr1:144596400-144622000	Weak transcription	NH-A	brain
21	chr1:144598800-144621400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:144598800-144623600	Weak transcription	Hela-S3	cervix
23	chr1:144599000-144621200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:144599200-144621600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:144599400-144621600	Weak transcription	HMEC	breast
26	chr1:144599400-144621800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:144599400-144622000	Weak transcription	Fetal Stomach	stomach
28	chr1:144599400-144623400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:144599800-144623800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:144601600-144621000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:144604400-144621600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:144607800-144621400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:144607800-144622000	Weak transcription	Fetal Intestine Large	intestine
34	chr1:144607800-144622000	Weak transcription	Left Ventricle	heart
35	chr1:144607800-144622000	Weak transcription	Ovary	ovary
36	chr1:144607800-144623600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:144608000-144621000	Weak transcription	NHLF	lung
38	chr1:144615200-144621400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:144615600-144620800	Weak transcription	Brain Anterior Caudate	brain
40	chr1:144615600-144620800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:144617000-144620600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:144617200-144620600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:144617200-144620600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:144617200-144620600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:144617800-144621000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:144618000-144620600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:144618000-144620600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:144618000-144620600	Strong transcription	Adipose Nuclei	Adipose
49	chr1:144618000-144621000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:144618000-144621400	Weak transcription	Esophagus	oesophagus

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