Variant report

Variant	rs4768603
Chromosome Location	chr12:45706502-45706503
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1015626	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10459295	0.89[EUR][1000 genomes]
rs10785566	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880765	0.87[EUR][1000 genomes]
rs10880766	0.87[EUR][1000 genomes]
rs10880768	0.89[EUR][1000 genomes]
rs10880771	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182957	0.87[EUR][1000 genomes]
rs11182961	0.87[EUR][1000 genomes]
rs11182965	0.89[EUR][1000 genomes]
rs11182966	0.89[EUR][1000 genomes]
rs11182969	0.89[EUR][1000 genomes]
rs11182970	0.89[EUR][1000 genomes]
rs11182973	0.84[EUR][1000 genomes]
rs11182974	0.84[EUR][1000 genomes]
rs11614082	0.82[EUR][1000 genomes]
rs11614089	0.89[EUR][1000 genomes]
rs12228399	0.89[EUR][1000 genomes]
rs1399721	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1913690	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1913692	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34759896	0.89[EUR][1000 genomes]
rs35032811	0.89[EUR][1000 genomes]
rs35400022	0.84[EUR][1000 genomes]
rs4326862	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768598	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768600	0.96[AFR][1000 genomes]
rs4768601	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768602	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768605	1.00[AFR][1000 genomes]
rs6582541	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136281	0.83[AFR][1000 genomes]
rs7136368	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7138247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs728590	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309615	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7487910	0.88[ASN][1000 genomes]
rs7965430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:45675800-45709000	Weak transcription	Lung	lung
5	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
9	chr12:45686200-45707000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:45691000-45708600	Weak transcription	Stomach Mucosa	stomach
11	chr12:45691000-45708800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:45692400-45709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:45692800-45707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:45693000-45707400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:45693200-45708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
19	chr12:45693600-45707000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:45693600-45707600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:45693600-45709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:45693600-45730600	Weak transcription	NH-A	brain
23	chr12:45693800-45721800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:45696200-45708600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:45696400-45736600	Weak transcription	HepG2	liver
27	chr12:45696600-45708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:45696800-45721800	Weak transcription	HMEC	breast
29	chr12:45697400-45709000	Weak transcription	Small Intestine	intestine
30	chr12:45698000-45709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
32	chr12:45698200-45708600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:45698200-45710000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:45698400-45708800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:45698800-45709000	Weak transcription	Fetal Stomach	stomach
36	chr12:45698800-45710000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
39	chr12:45699000-45707200	Weak transcription	Fetal Intestine Large	intestine
40	chr12:45699000-45707200	Weak transcription	Dnd41	blood
41	chr12:45699000-45708400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:45699000-45709600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:45699000-45710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:45699000-45741800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:45699200-45707800	Weak transcription	HUVEC	blood vessel
46	chr12:45699400-45706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:45699400-45725400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:45699600-45708800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:45699800-45707800	Weak transcription	Thymus	Thymus
50	chr12:45699800-45708800	Weak transcription	Spleen	Spleen

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