Variant report

Variant	rs3850347
Chromosome Location	chr2:54166321-54166322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
2	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
3	chr2:54162305..54164219-chr2:54165921..54167840,2	MCF-7	breast:
4	chr2:54165576..54167252-chr2:54193257..54196468,3	K562	blood:
5	chr2:54166205..54169657-chr2:54178051..54180434,3	K562	blood:
6	chr2:54160918..54162928-chr2:54165663..54167346,2	K562	blood:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10185375	0.82[CEU][hapmap]
rs10432674	0.92[ASN][1000 genomes]
rs12162342	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12162343	0.87[ASN][1000 genomes]
rs12612589	1.00[CEU][hapmap]
rs12614854	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12620383	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12621783	0.86[ASN][1000 genomes]
rs12623273	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623380	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1547980	0.82[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17045215	1.00[CEU][hapmap]
rs17045337	0.84[ASN][1000 genomes]
rs17045370	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17045386	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17045435	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2068017	0.88[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.85[ASN][1000 genomes]
rs2287344	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs2287345	0.85[CEU][hapmap]
rs2293359	0.80[AMR][1000 genomes]
rs2293360	0.80[AMR][1000 genomes]
rs2293361	0.82[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28396307	0.82[ASN][1000 genomes]
rs3213775	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3731972	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3731973	0.88[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.92[ASN][1000 genomes]
rs3770389	0.87[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3821078	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55940356	0.84[AMR][1000 genomes]
rs58879065	0.90[AMR][1000 genomes]
rs6713523	0.81[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs6720298	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72799239	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72799248	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72799250	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72799257	0.92[ASN][1000 genomes]
rs72799259	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72799262	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72799268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7580916	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs805371	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9309252	0.96[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
9	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:54139400-54167200	Strong transcription	Liver	Liver
12	chr2:54139400-54167800	Strong transcription	Dnd41	blood
13	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:54139600-54170800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:54141200-54167200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:54141400-54166600	Strong transcription	NH-A	brain
18	chr2:54141400-54167400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:54141400-54167600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:54141400-54170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:54141600-54167000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:54141600-54167000	Strong transcription	Osteobl	bone
23	chr2:54142000-54167200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:54142000-54167200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:54142200-54167200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:54142200-54167800	Strong transcription	HSMM	muscle
27	chr2:54142400-54166600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:54143000-54177600	Strong transcription	HepG2	liver
29	chr2:54143200-54167400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:54143400-54167000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:54143400-54176200	Strong transcription	HMEC	breast
32	chr2:54144200-54166600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:54144400-54167800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:54144600-54166400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:54144600-54167400	Strong transcription	Fetal Intestine Large	intestine
36	chr2:54145000-54166400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:54145600-54167400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:54149800-54177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:54150000-54166400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:54150600-54167200	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
44	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
46	chr2:54157000-54168000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:54158600-54173600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:54159200-54173200	Weak transcription	Gastric	stomach
49	chr2:54159200-54177000	Weak transcription	Pancreas	Pancrea
50	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart

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