Variant report

Variant	rs7514174
Chromosome Location	chr1:155399292-155399293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12734374	0.91[AFR][1000 genomes]
rs41264229	0.83[AMR][1000 genomes]
rs6672663	0.82[AFR][1000 genomes]
rs6690002	0.82[AFR][1000 genomes]
rs7519564	1.00[AFR][1000 genomes]
rs7527209	0.94[AFR][1000 genomes]
rs7529556	1.00[AFR][1000 genomes]
rs7531890	0.97[AFR][1000 genomes]
rs7554397	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers 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	67 gene(s)	inside rSNPs	diseases
3	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
4	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155312400-155407400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155345600-155403000	Weak transcription	Esophagus	oesophagus
3	chr1:155347400-155407400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:155349400-155407600	Weak transcription	Aorta	Aorta
5	chr1:155349800-155403000	Weak transcription	NHLF	lung
6	chr1:155350000-155402400	Weak transcription	Brain Substantia Nigra	brain
7	chr1:155357200-155400600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:155359400-155407200	Weak transcription	Pancreas	Pancrea
9	chr1:155361400-155406800	Weak transcription	Fetal Heart	heart
10	chr1:155362200-155433400	Weak transcription	Psoas Muscle	Psoas
11	chr1:155362800-155442400	Weak transcription	Right Ventricle	heart
12	chr1:155363000-155407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:155364400-155450800	Weak transcription	HUVEC	blood vessel
14	chr1:155365000-155407800	Weak transcription	Fetal Kidney	kidney
15	chr1:155365200-155403000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:155365200-155406800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:155365200-155407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:155365400-155402600	Weak transcription	Small Intestine	intestine
19	chr1:155365400-155406600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:155365600-155404800	Weak transcription	NHDF-Ad	bronchial
21	chr1:155365600-155406800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:155365600-155407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:155367400-155426000	Weak transcription	Stomach Mucosa	stomach
24	chr1:155376400-155400600	Weak transcription	Spleen	Spleen
25	chr1:155381800-155407200	Weak transcription	HMEC	breast
26	chr1:155382600-155400600	Weak transcription	Colonic Mucosa	Colon
27	chr1:155382600-155406600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:155382600-155408000	Weak transcription	Ovary	ovary
29	chr1:155383400-155407600	Weak transcription	Gastric	stomach
30	chr1:155384000-155406800	Weak transcription	HepG2	liver
31	chr1:155384600-155406600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:155384800-155425600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:155385000-155407000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:155385400-155401400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:155385600-155402600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:155385600-155406600	Weak transcription	HSMM	muscle
37	chr1:155385600-155407000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:155385800-155400600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:155385800-155408000	Weak transcription	Brain Germinal Matrix	brain
40	chr1:155386600-155406600	Weak transcription	NHEK	skin
41	chr1:155387000-155401200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:155387400-155399400	Weak transcription	Primary T cells from cord blood	blood
43	chr1:155387400-155400200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:155387400-155401400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:155387600-155401200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:155387600-155403000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:155388400-155399400	Weak transcription	Hela-S3	cervix
48	chr1:155389800-155406600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:155390000-155405000	Weak transcription	Osteobl	bone
50	chr1:155391000-155403400	Weak transcription	Brain Cingulate Gyrus	brain

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