Variant report

Variant	rs34484492
Chromosome Location	chr1:174947070-174947071
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174934516..174936659-chr1:174945520..174947584,2	MCF-7	breast:
2	chr1:174780849..174783447-chr1:174946547..174949179,2	K562	blood:
3	chr1:174945465..174948131-chr1:174948886..174950662,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10912860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10912867	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11582831	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12119351	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122399	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124150	0.93[EUR][1000 genomes]
rs12125682	0.93[EUR][1000 genomes]
rs12723394	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753457	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56978149	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59663317	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537508	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550448	0.89[AMR][1000 genomes];0.93[EUR][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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34484492	RC3H1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:174924200-174967800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:174924400-174958200	Weak transcription	Fetal Brain Male	brain
4	chr1:174933000-174953600	Weak transcription	Fetal Heart	heart
5	chr1:174935000-174959000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:174935000-174964000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:174935000-174967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:174935200-174959000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:174935200-174959600	Weak transcription	Esophagus	oesophagus
10	chr1:174935400-174958400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:174935800-174959600	Weak transcription	Fetal Kidney	kidney
12	chr1:174936000-174950600	Weak transcription	Fetal Brain Female	brain
13	chr1:174936000-174958600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:174937000-174963600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:174937200-174955000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:174937400-174963600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:174938000-174963600	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr1:174938600-174952000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:174938600-174959000	Weak transcription	Small Intestine	intestine
20	chr1:174938600-174959400	Weak transcription	Psoas Muscle	Psoas
21	chr1:174938600-174965200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:174938800-174951600	Weak transcription	Left Ventricle	heart
23	chr1:174938800-174959000	Weak transcription	Thymus	Thymus
24	chr1:174939400-174958800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:174939600-174947800	Weak transcription	Liver	Liver
26	chr1:174940000-174967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:174940600-174962000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:174940600-174963600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:174941000-174951400	Weak transcription	Dnd41	blood
30	chr1:174941000-174968000	Weak transcription	Gastric	stomach
31	chr1:174941200-174951600	Weak transcription	Fetal Thymus	thymus
32	chr1:174941200-174952000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:174941200-174959600	Weak transcription	Colonic Mucosa	Colon
34	chr1:174941200-174959600	Weak transcription	Stomach Mucosa	stomach
35	chr1:174941400-174959400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:174941600-174948200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:174941600-174948400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:174941600-174948400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:174941600-174948600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:174941600-174951600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:174941800-174948200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:174941800-174951800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:174941800-174952600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:174942800-174957000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:174942800-174959000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:174942800-174959600	Weak transcription	Right Ventricle	heart
47	chr1:174943400-174947200	Strong transcription	Primary B cells from cord blood	blood
48	chr1:174943400-174949000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:174943400-174952000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:174943400-174952800	Strong transcription	Rectal Mucosa Donor 29	rectum

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