Variant report

Variant	rs805449
Chromosome Location	chr2:54178132-54178133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
2	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
3	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:
4	chr2:54177874..54180266-chr2:54264594..54267225,2	K562	blood:
5	chr2:54173684..54175896-chr2:54177409..54179300,2	K562	blood:
6	chr2:54166205..54169657-chr2:54178051..54180434,3	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1232	0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17039547	0.91[YRI][hapmap]
rs17045203	0.82[CHB][hapmap]
rs2287340	0.82[CHB][hapmap]
rs2287643	0.91[YRI][hapmap]
rs2542582	0.92[CHB][hapmap]
rs2542589	0.92[CHB][hapmap]
rs2542591	0.92[CHB][hapmap]
rs2542592	1.00[CHB][hapmap]
rs2543629	0.80[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap]
rs2692519	0.92[CHB][hapmap]
rs2692533	0.92[CHB][hapmap]
rs2909459	0.81[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2949810	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2949813	0.91[CHB][hapmap]
rs2949814	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34498089	1.00[YRI][hapmap]
rs4671746	0.80[AMR][1000 genomes]
rs55692047	0.80[AMR][1000 genomes]
rs56302494	0.80[AMR][1000 genomes]
rs62139336	0.82[AMR][1000 genomes]
rs6721970	0.91[YRI][hapmap]
rs698855	0.87[CEU][hapmap]
rs698857	0.80[AMR][1000 genomes]
rs805311	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805313	0.82[AMR][1000 genomes]
rs805316	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805321	0.83[CEU][hapmap]
rs805325	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805326	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805327	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805337	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805340	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805351	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs805352	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs805353	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs805354	0.83[AMR][1000 genomes]
rs805355	0.83[AMR][1000 genomes]
rs805356	0.83[AMR][1000 genomes]
rs805357	0.83[AMR][1000 genomes]
rs805362	0.83[AMR][1000 genomes]
rs805365	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs805368	0.89[AMR][1000 genomes]
rs805383	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805385	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805397	0.82[AMR][1000 genomes]
rs805398	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805399	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs805400	0.81[AMR][1000 genomes]
rs805401	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs805404	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs805406	0.80[AMR][1000 genomes]
rs805407	0.80[AMR][1000 genomes]
rs805408	0.80[AMR][1000 genomes]
rs805411	0.80[AMR][1000 genomes]
rs805413	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805414	0.80[AMR][1000 genomes]
rs805426	0.82[CEU][hapmap]
rs805437	1.00[CHB][hapmap]
rs805446	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805448	0.95[ASN][1000 genomes]
rs805451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805452	0.99[ASN][1000 genomes]
rs809281	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs809282	0.81[AMR][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	nsv829423	chr2:54177847-54181052	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805449	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 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	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
6	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
8	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
9	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
10	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
11	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
12	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:54161600-54189800	Weak transcription	Ovary	ovary
16	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:54172800-54179200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:54172800-54184400	Weak transcription	Brain Anterior Caudate	brain
20	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
23	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
24	chr2:54174400-54178400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:54174400-54179600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:54174400-54180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:54174400-54182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:54174400-54184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
32	chr2:54174600-54178200	Weak transcription	Fetal Lung	lung
33	chr2:54174600-54180400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:54175000-54179800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:54175200-54179200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
38	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:54175600-54184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:54175800-54184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:54176000-54179800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:54176000-54184600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:54176200-54178600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:54176200-54179400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:54176200-54180000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:54176200-54180200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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