Variant report

Variant	rs2354878
Chromosome Location	chr2:191288694-191288695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191283847..191285576-chr2:191285835..191288726,2	K562	blood:
2	chr2:191271541..191273280-chr2:191286699..191289449,2	K562	blood:
3	chr2:191283057..191285347-chr2:191287084..191288726,2	K562	blood:
4	chr2:191281312..191283721-chr2:191286565..191289229,2	MCF-7	breast:
5	chr2:191275114..191277929-chr2:191286711..191289697,2	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10182754	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10193212	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931453	0.83[AMR][1000 genomes]
rs11886184	0.90[AFR][1000 genomes]
rs12475614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613807	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12693574	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998288	0.91[ASN][1000 genomes]
rs13020324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13409841	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1440988	0.90[AFR][1000 genomes]
rs1440989	0.90[AFR][1000 genomes]
rs2354877	0.91[AFR][1000 genomes]
rs35095338	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811607	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4853507	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4853702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853705	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4853711	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4853713	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6434391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748034	0.93[AFR][1000 genomes]
rs7557681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564829	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7596573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603607	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9646748	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9646815	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2354878	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs2354878	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191273800-191301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191274200-191291600	Weak transcription	Fetal Stomach	stomach
3	chr2:191274600-191291400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:191274800-191300800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:191277400-191291400	Weak transcription	Fetal Intestine Small	intestine
6	chr2:191278400-191291200	Weak transcription	Fetal Brain Female	brain
7	chr2:191278400-191291600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:191278600-191301200	Weak transcription	Pancreas	Pancrea
9	chr2:191278800-191290000	Weak transcription	K562	blood
10	chr2:191278800-191300800	Weak transcription	Fetal Thymus	thymus
11	chr2:191278800-191301200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:191279000-191296800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:191279000-191300800	Weak transcription	Esophagus	oesophagus
14	chr2:191279200-191303000	Weak transcription	NHEK	skin
15	chr2:191279400-191296400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:191280400-191291400	Weak transcription	Thymus	Thymus
17	chr2:191280400-191296400	Weak transcription	Spleen	Spleen
18	chr2:191280800-191296400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:191281400-191291600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:191281400-191292800	Weak transcription	Dnd41	blood
21	chr2:191281400-191296800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:191281400-191298600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:191281600-191290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:191281800-191296800	Weak transcription	Small Intestine	intestine
25	chr2:191282200-191289400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:191282200-191296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:191282400-191297000	Weak transcription	Ovary	ovary
28	chr2:191282600-191297000	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:191282800-191301200	Weak transcription	Fetal Brain Male	brain
30	chr2:191283000-191289800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:191283000-191292800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:191283200-191289600	Weak transcription	Primary T cells from cord blood	blood
33	chr2:191283200-191301000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:191283800-191289600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:191284000-191290000	Weak transcription	Primary B cells from cord blood	blood
36	chr2:191284000-191296400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:191284200-191289800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:191284200-191291600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:191284200-191291600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:191284200-191296400	Weak transcription	Left Ventricle	heart
41	chr2:191284200-191301000	Weak transcription	Gastric	stomach
42	chr2:191284200-191301200	Weak transcription	Right Ventricle	heart
43	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
44	chr2:191284400-191289400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:191284400-191291600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:191284400-191296400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:191284600-191289400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:191284800-191291600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:191285200-191290000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:191285200-191290600	Weak transcription	Primary monocytes fromperipheralblood	blood

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