Variant report

Variant	rs6425254
Chromosome Location	chr1:173698510-173698511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10798295	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10912676	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4606360	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7544605	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7552939	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
2	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
3	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
5	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:173685800-173702800	Weak transcription	NH-A	brain
8	chr1:173685800-173703000	Weak transcription	Osteobl	bone
9	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:173686200-173702800	Weak transcription	NHEK	skin
11	chr1:173686600-173702800	Weak transcription	HSMMtube	muscle
12	chr1:173686800-173702800	Weak transcription	Gastric	stomach
13	chr1:173686800-173703000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
15	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
17	chr1:173687000-173702800	Weak transcription	HepG2	liver
18	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:173687800-173702200	Weak transcription	Lung	lung
20	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
22	chr1:173693000-173702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:173694600-173704000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:173694600-173706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:173694600-173708000	Weak transcription	Fetal Heart	heart
26	chr1:173694600-173724800	Weak transcription	HMEC	breast
27	chr1:173694800-173703000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:173694800-173718400	Weak transcription	NHDF-Ad	bronchial
29	chr1:173695000-173702400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:173695000-173702800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:173695000-173702800	Weak transcription	HSMM	muscle
32	chr1:173695000-173702800	Weak transcription	NHLF	lung
33	chr1:173695000-173703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:173695000-173703000	Weak transcription	GM12878-XiMat	blood
35	chr1:173695000-173703000	Weak transcription	K562	blood
36	chr1:173695000-173703200	Weak transcription	Fetal Brain Male	brain
37	chr1:173695000-173718000	Weak transcription	A549	lung
38	chr1:173695200-173703000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:173695200-173703000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:173695400-173702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:173695400-173702600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:173695400-173702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:173695400-173702800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:173695400-173702800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:173695400-173703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:173695400-173704800	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:173695600-173702200	Weak transcription	Pancreas	Pancrea
50	chr1:173695600-173702600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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