Variant report

Variant	rs4853701
Chromosome Location	chr2:191282424-191282425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191281878..191284622-chr2:191332467..191334899,2	MCF-7	breast:
2	chr2:191281312..191283721-chr2:191286565..191289229,2	MCF-7	breast:
3	chr2:191271590..191276457-chr2:191281985..191285840,5	MCF-7	breast:
4	chr2:191281256..191282888-chr2:191283439..191285741,2	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10804034	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931455	0.90[EUR][1000 genomes]
rs10931459	0.87[EUR][1000 genomes]
rs10931460	0.87[EUR][1000 genomes]
rs11673788	0.90[EUR][1000 genomes]
rs11673921	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11674229	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11677333	0.86[EUR][1000 genomes]
rs11685221	0.89[EUR][1000 genomes]
rs11695681	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801596	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34703964	0.83[EUR][1000 genomes]
rs36064835	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324341	0.90[EUR][1000 genomes]
rs4343493	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4384819	0.87[EUR][1000 genomes]
rs4384820	0.87[EUR][1000 genomes]
rs4597559	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4638823	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55784091	0.85[EUR][1000 genomes]
rs55884870	0.87[EUR][1000 genomes]
rs55901912	0.90[EUR][1000 genomes]
rs55918914	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094872	0.90[EUR][1000 genomes]
rs56337518	0.90[EUR][1000 genomes]
rs61730953	0.87[EUR][1000 genomes]
rs61743479	0.88[EUR][1000 genomes]
rs62180963	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62180964	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62180981	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180988	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62180989	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62181001	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181002	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181014	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181015	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181017	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62181024	0.91[EUR][1000 genomes]
rs62181026	0.91[EUR][1000 genomes]
rs62181027	0.91[EUR][1000 genomes]
rs62181031	0.91[EUR][1000 genomes]
rs62181032	0.88[EUR][1000 genomes]
rs62181033	0.90[EUR][1000 genomes]
rs62181036	0.90[EUR][1000 genomes]
rs62181053	0.87[EUR][1000 genomes]
rs62181057	0.87[EUR][1000 genomes]
rs62182860	0.87[EUR][1000 genomes]
rs62182861	0.85[EUR][1000 genomes]
rs62182862	0.87[EUR][1000 genomes]
rs62182863	0.86[EUR][1000 genomes]
rs62182864	0.86[EUR][1000 genomes]
rs6707836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714829	0.86[EUR][1000 genomes]
rs6719656	0.87[EUR][1000 genomes]
rs6725814	0.96[ASN][1000 genomes]
rs6742904	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753226	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6756354	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757698	0.90[EUR][1000 genomes]
rs72903331	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72905231	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72905290	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72907168	0.89[EUR][1000 genomes]
rs72911128	0.85[EUR][1000 genomes]
rs7572139	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7573621	0.90[EUR][1000 genomes]
rs7574871	0.87[EUR][1000 genomes]
rs7721	0.89[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4853701	FLJ20160	cis	multi-tissue	Pritchard
rs4853701	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs4853701	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 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	chr2:191274400-191285000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:191274600-191291400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:191274800-191283800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:191274800-191285000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:191274800-191286000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:191274800-191300800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:191277400-191291400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:191278400-191291200	Weak transcription	Fetal Brain Female	brain
11	chr2:191278400-191291600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:191278600-191283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:191278600-191283400	Weak transcription	Stomach Mucosa	stomach
14	chr2:191278600-191301200	Weak transcription	Pancreas	Pancrea
15	chr2:191278800-191285200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:191278800-191290000	Weak transcription	K562	blood
17	chr2:191278800-191300800	Weak transcription	Fetal Thymus	thymus
18	chr2:191278800-191301200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:191279000-191296800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:191279000-191300800	Weak transcription	Esophagus	oesophagus
21	chr2:191279200-191303000	Weak transcription	NHEK	skin
22	chr2:191279400-191283600	Weak transcription	HMEC	breast
23	chr2:191279400-191296400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:191279800-191284200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:191279800-191285400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:191279800-191285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:191280200-191283000	Enhancers	Brain Anterior Caudate	brain
28	chr2:191280200-191283200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:191280400-191283400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:191280400-191284600	Enhancers	Brain Substantia Nigra	brain
31	chr2:191280400-191291400	Weak transcription	Thymus	Thymus
32	chr2:191280400-191296400	Weak transcription	Spleen	Spleen
33	chr2:191280600-191282600	Enhancers	Adipose Nuclei	Adipose
34	chr2:191280800-191296400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:191281000-191283600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:191281000-191284200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:191281200-191282600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:191281200-191282600	Enhancers	Fetal Muscle Leg	muscle
39	chr2:191281200-191282800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:191281200-191283000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:191281200-191283000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:191281400-191282800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:191281400-191282800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:191281400-191283200	Enhancers	Primary T cells from cord blood	blood
45	chr2:191281400-191283200	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:191281400-191283400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:191281400-191291600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:191281400-191292800	Weak transcription	Dnd41	blood
49	chr2:191281400-191296800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:191281400-191298600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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