Variant report

Variant	rs805334
Chromosome Location	chr2:54184545-54184546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54183157..54185588-chr2:54196641..54199533,3	MCF-7	breast:
2	chr2:54184085..54186543-chr2:54292825..54294983,2	K562	blood:
3	chr2:54184186..54188575-chr2:54196120..54198955,4	MCF-7	breast:
4	chr2:54179674..54181660-chr2:54183447..54186390,2	MCF-7	breast:
5	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11683741	0.83[AMR][1000 genomes]
rs11689025	0.83[AMR][1000 genomes]
rs11890838	1.00[YRI][hapmap]
rs1232	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17045199	0.81[CEU][hapmap]
rs17045203	0.81[CHB][hapmap]
rs17045452	0.80[AMR][1000 genomes]
rs2287340	0.81[CHB][hapmap]
rs2542582	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2542589	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs2542591	0.86[CEU][hapmap];0.91[CHB][hapmap]
rs2542592	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2543629	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2692519	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2692533	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2692534	0.86[CEU][hapmap]
rs2949810	0.84[AMR][1000 genomes]
rs2949813	0.90[CHB][hapmap]
rs2949814	0.81[AMR][1000 genomes]
rs2949815	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6545377	0.83[AMR][1000 genomes]
rs805310	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs805311	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805316	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs805325	0.84[AMR][1000 genomes]
rs805326	0.84[AMR][1000 genomes]
rs805327	0.84[AMR][1000 genomes]
rs805328	0.81[YRI][hapmap]
rs805337	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs805338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs805340	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs805344	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs805351	0.82[YRI][hapmap]
rs805352	0.81[YRI][hapmap]
rs805363	0.82[AFR][1000 genomes]
rs805365	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs805383	0.80[AMR][1000 genomes]
rs805385	0.83[AMR][1000 genomes]
rs805398	0.84[AMR][1000 genomes]
rs805413	0.84[AMR][1000 genomes]
rs805437	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs805446	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805447	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805448	0.91[ASN][1000 genomes]
rs805449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805451	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs805452	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs809281	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805334	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
2	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
4	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
6	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
7	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
8	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
9	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
10	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:54161600-54189800	Weak transcription	Ovary	ovary
13	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
17	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
18	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
21	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
23	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:54176000-54184600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:54176200-54184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:54176200-54184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:54176200-54188400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:54176200-54188400	Weak transcription	HMEC	breast
33	chr2:54176200-54188600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:54176200-54189800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:54176200-54189800	Weak transcription	NH-A	brain
36	chr2:54176200-54191600	Weak transcription	NHDF-Ad	bronchial
37	chr2:54176200-54192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
43	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
44	chr2:54176400-54187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:54176400-54188200	Weak transcription	Primary T cells from cord blood	blood
46	chr2:54176400-54188400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:54176400-54189000	Weak transcription	Fetal Kidney	kidney
48	chr2:54176400-54194800	Weak transcription	NHLF	lung
49	chr2:54176400-54195000	Weak transcription	HSMM	muscle
50	chr2:54176600-54188600	Weak transcription	Monocytes-CD14+_RO01746	blood

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