Variant report

Variant	rs17045435
Chromosome Location	chr2:54174258-54174259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54172497..54174630-chr2:54175164..54176893,2	K562	blood:
2	chr2:54161004..54163781-chr2:54171778..54174674,2	K562	blood:
3	chr2:54173684..54175896-chr2:54177409..54179300,2	K562	blood:
4	chr2:54169796..54171728-chr2:54173892..54176111,2	K562	blood:
5	chr2:54162281..54164270-chr2:54171778..54174440,2	K562	blood:
6	chr2:54174239..54176293-chr2:54179701..54182021,2	MCF-7	breast:
7	chr2:54173721..54175939-chr2:54181510..54183998,2	K562	blood:
8	chr2:54174064..54177025-chr2:54196606..54198334,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12162342	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12612589	0.87[CEU][hapmap]
rs12614854	0.82[AMR][1000 genomes]
rs12620383	0.80[AMR][1000 genomes]
rs12623273	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12623380	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13426329	0.81[JPT][hapmap]
rs1547980	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes]
rs17045215	0.87[CEU][hapmap]
rs17045370	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17045386	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2016490	0.80[ASN][1000 genomes]
rs2068017	0.89[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap]
rs2287344	0.87[CEU][hapmap];0.87[GIH][hapmap];0.82[TSI][hapmap]
rs2293359	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2293360	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2293361	0.87[CEU][hapmap];0.94[CHB][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs3213775	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3731972	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3731973	0.89[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap]
rs3770389	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs3821078	0.80[EUR][1000 genomes]
rs3850347	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]
rs55940356	0.84[AMR][1000 genomes]
rs58879065	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6712204	0.80[GIH][hapmap]
rs6713523	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs6720298	0.82[EUR][1000 genomes]
rs72799239	0.80[EUR][1000 genomes]
rs72799248	0.80[AMR][1000 genomes]
rs72799250	0.82[AMR][1000 genomes]
rs72799259	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72799262	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72799268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7580916	0.84[AMR][1000 genomes]
rs7586686	0.80[GIH][hapmap]
rs805371	0.80[EUR][1000 genomes]
rs9309252	0.81[ASN][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
3	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:54143000-54177600	Strong transcription	HepG2	liver
10	chr2:54143400-54176200	Strong transcription	HMEC	breast
11	chr2:54149800-54177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
15	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
17	chr2:54159200-54177000	Weak transcription	Pancreas	Pancrea
18	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart
19	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
20	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
21	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
22	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
23	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:54160800-54177200	Weak transcription	Lung	lung
26	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:54161600-54189800	Weak transcription	Ovary	ovary
28	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:54164000-54176400	Weak transcription	Fetal Brain Female	brain
30	chr2:54164200-54177000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:54164800-54176600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:54167000-54176400	Weak transcription	NHEK	skin
33	chr2:54167600-54176400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:54169000-54177400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:54169200-54176400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:54170000-54176200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:54170000-54176800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:54171600-54174400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:54171800-54176200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:54172000-54176200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:54172000-54176200	Strong transcription	NH-A	brain
43	chr2:54172400-54174400	Strong transcription	Hela-S3	cervix
44	chr2:54172400-54176000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr2:54172400-54176000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:54172400-54176600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:54172400-54177000	Strong transcription	Dnd41	blood
48	chr2:54172600-54174400	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:54172600-54175000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr2:54172600-54176200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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