Variant report

Variant	rs392194
Chromosome Location	chr1:76619242-76619243
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76596952..76598504-chr1:76616645..76619490,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs289684	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs289685	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs371490	0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs401290	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs425877	1.00[EUR][1000 genomes]
rs439624	1.00[EUR][1000 genomes]
rs453606	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519835	1.00[EUR][1000 genomes]
rs549899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76599800-76620200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76606200-76620000	Weak transcription	Spleen	Spleen
4	chr1:76608000-76620200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:76608200-76620200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76608200-76620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:76611000-76620000	Weak transcription	Fetal Lung	lung
8	chr1:76616400-76623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:76616600-76619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:76616600-76619800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:76616600-76620000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:76616600-76620000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:76616600-76620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:76616800-76619600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:76616800-76619800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:76616800-76619800	Weak transcription	Lung	lung
17	chr1:76616800-76620000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:76616800-76620000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:76616800-76620000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:76616800-76620200	Weak transcription	Esophagus	oesophagus
21	chr1:76617000-76619600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:76617000-76619800	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:76617000-76619800	Weak transcription	Fetal Stomach	stomach
24	chr1:76617000-76620000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:76617200-76620000	Weak transcription	Adipose Nuclei	Adipose
26	chr1:76617400-76619800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:76617400-76620000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:76617400-76620000	Weak transcription	Right Atrium	heart
29	chr1:76617600-76620000	Weak transcription	Left Ventricle	heart
30	chr1:76618000-76619800	Weak transcription	Fetal Kidney	kidney
31	chr1:76618400-76619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:76618600-76619800	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links