Variant report

Variant	rs1894204
Chromosome Location	chr11:67929671-67929672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67928130..67930692-chr11:67930944..67932522,2	MCF-7	breast:
2	chr11:67778899..67781457-chr11:67928106..67930738,2	K562	blood:
3	chr11:67929250..67931761-chr11:67939432..67941262,2	K562	blood:
4	chr11:67922292..67925565-chr11:67928483..67930518,3	MCF-7	breast:
5	chr11:67928423..67930737-chr11:67930879..67934673,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10791957	0.80[MEX][hapmap]
rs10896298	0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes]
rs10896301	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10896303	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896304	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11228131	0.80[MEX][hapmap]
rs11228145	0.80[JPT][hapmap]
rs12225316	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2011157	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2054865	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2457179	0.80[MEX][hapmap]
rs2511437	0.80[MEX][hapmap]
rs2511467	0.80[JPT][hapmap]
rs2511469	0.80[JPT][hapmap]
rs2511470	0.84[JPT][hapmap];0.85[MEX][hapmap]
rs2511475	0.80[JPT][hapmap];0.85[MEX][hapmap]
rs2511479	0.80[JPT][hapmap]
rs2512611	0.80[MEX][hapmap]
rs2512612	0.80[MEX][hapmap]
rs2512623	0.84[GIH][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap]
rs3133327	0.80[MEX][hapmap]
rs34236202	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34493482	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4073551	0.80[MEX][hapmap]
rs4345973	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930228	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930229	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930230	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4930561	0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes]
rs4930563	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4930564	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61890513	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7931502	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs7940501	0.80[JPT][hapmap];0.80[MEX][hapmap]
rs7944372	0.80[JPT][hapmap];0.80[MEX][hapmap]
rs7950452	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[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	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1894204	SUV420H1	Cis_1M	lymphoblastoid	RTeQTL
rs1894204	FGF19	cis	parietal	SCAN
rs1894204	GPR152	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67913200-67933200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:67914600-67930200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:67915000-67933000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:67915000-67934000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:67915000-67943000	Weak transcription	Right Atrium	heart
6	chr11:67915000-67973800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:67917200-67939400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:67918000-67931400	Weak transcription	HMEC	breast
9	chr11:67918000-67931800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:67918000-67931800	Weak transcription	Hela-S3	cervix
11	chr11:67918000-67933200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:67918800-67936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:67920200-67930600	Weak transcription	NHLF	lung
14	chr11:67922000-67937200	Weak transcription	Stomach Mucosa	stomach
15	chr11:67922000-67937400	Weak transcription	Small Intestine	intestine
16	chr11:67922200-67930800	Weak transcription	HepG2	liver
17	chr11:67922400-67933200	Weak transcription	Fetal Brain Male	brain
18	chr11:67922600-67956600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:67922800-67933200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:67924000-67933600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:67924000-67933800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:67924000-67936200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:67924200-67949800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr11:67924400-67956600	Strong transcription	Fetal Intestine Large	intestine
25	chr11:67924400-67956800	Strong transcription	Primary T cells from cord blood	blood
26	chr11:67924400-67957000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:67924600-67956400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:67924600-67956600	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:67924800-67943200	Strong transcription	Brain Substantia Nigra	brain
30	chr11:67925000-67932000	Strong transcription	Fetal Thymus	thymus
31	chr11:67925000-67933000	Strong transcription	Liver	Liver
32	chr11:67925200-67929800	Strong transcription	Aorta	Aorta
33	chr11:67925200-67955000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:67925600-67933200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:67925600-67944400	Strong transcription	Fetal Intestine Small	intestine
36	chr11:67925600-67948400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:67925800-67933000	Weak transcription	HUVEC	blood vessel
38	chr11:67926200-67930600	Weak transcription	NH-A	brain
39	chr11:67926200-67930600	Weak transcription	Osteobl	bone
40	chr11:67926200-67930800	Weak transcription	Brain Anterior Caudate	brain
41	chr11:67926200-67930800	Weak transcription	Esophagus	oesophagus
42	chr11:67926200-67930800	Weak transcription	A549	lung
43	chr11:67926200-67931000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:67926200-67931000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:67926200-67931200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:67926200-67931200	Weak transcription	Right Ventricle	heart
47	chr11:67926200-67931200	Weak transcription	NHEK	skin
48	chr11:67926200-67931800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:67926200-67932000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:67926200-67933000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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