Variant report

Variant	rs7304121
Chromosome Location	chr12:9068813-9068814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10743564	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771204	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11047996	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048060	0.88[ASN][1000 genomes]
rs1805740	0.89[ASN][1000 genomes]
rs1805741	0.86[ASN][1000 genomes]
rs1805762	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805778	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4882966	0.84[ASN][1000 genomes]
rs4882968	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4882969	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882970	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4883197	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4883199	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7297194	0.88[ASN][1000 genomes]
rs7309772	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7312166	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7312676	0.83[ASN][1000 genomes]
rs887782	0.80[AFR][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	esv3388347	chr12:9068632-9069073	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9063800-9069600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:9064600-9070200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:9064800-9069400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:9064800-9069600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:9065200-9070200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:9065200-9070200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:9065600-9069400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:9065600-9069800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:9066000-9069000	Active TSS	Right Atrium	heart
10	chr12:9066000-9069600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:9066200-9069400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:9066200-9069400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:9066200-9069600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr12:9066400-9069000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:9066600-9069400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:9067600-9069000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:9067600-9069000	Flanking Active TSS	Dnd41	blood
18	chr12:9068000-9069000	Flanking Active TSS	Fetal Brain Female	brain
19	chr12:9068200-9069000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:9068200-9069000	Enhancers	Fetal Brain Male	brain
21	chr12:9068200-9069000	Enhancers	HepG2	liver
22	chr12:9068200-9069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:9068200-9069400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9068200-9069400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:9068200-9069800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:9068200-9069800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:9068200-9069800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:9068200-9070000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:9068200-9070000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:9068200-9070400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:9068200-9070400	Enhancers	K562	blood
32	chr12:9068200-9070800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
33	chr12:9068200-9071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:9068200-9071000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:9068200-9071200	Weak transcription	Fetal Intestine Large	intestine
36	chr12:9068200-9072000	Weak transcription	Left Ventricle	heart
37	chr12:9068200-9072200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:9068200-9072400	Weak transcription	Aorta	Aorta
39	chr12:9068200-9072400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:9068200-9074000	Weak transcription	Liver	Liver
41	chr12:9068200-9074000	Weak transcription	Spleen	Spleen
42	chr12:9068200-9074800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:9068200-9075000	Weak transcription	Pancreas	Pancrea
44	chr12:9068200-9079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:9068200-9084000	Weak transcription	Esophagus	oesophagus
46	chr12:9068200-9086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:9068200-9088800	Weak transcription	Gastric	stomach
48	chr12:9068200-9091400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:9068200-9094200	Weak transcription	Colonic Mucosa	Colon
50	chr12:9068200-9094200	Weak transcription	Lung	lung

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