Variant report

Variant	rs11169551
Chromosome Location	chr12:51154844-51154845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51154747-51156514	K562	blood:	n/a	n/a
2	POLR2A	chr12:51153937-51156625	K562	blood:	n/a	n/a
3	POLR2A	chr12:51154278-51156435	HepG2	liver:	n/a	n/a
4	ZNF384	chr12:51154661-51154881	K562	blood:	n/a	n/a
5	SPI1	chr12:51154575-51154956	HL-60	blood:	n/a	chr12:51154787-51154800
6	ZNF384	chr12:51154684-51155010	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:51154828-51155771	K562	blood:	n/a	n/a
8	POLR2A	chr12:51154842-51156666	SK-N-MC	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51154627..51156805-chr12:51157397..51159001,2	K562	blood:
2	chr12:51138761..51142670-chr12:51152791..51156201,3	K562	blood:
3	chr12:51144406..51146015-chr12:51154196..51156059,2	K562	blood:
4	chr12:51154190..51156314-chr5:179049312..179052209,2	MCF-7	breast:
5	chr12:51147055..51148695-chr12:51151932..51154875,2	K562	blood:
6	chr12:51150985..51152690-chr12:51154606..51156360,3	K562	blood:

No data

Variant related genes	Relation type
ATF1	TF binding region
ENSG00000169045	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10506296	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs10735827	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10747590	0.85[ASN][1000 genomes]
rs10747592	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10747593	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10783388	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10783390	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10876082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876083	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10876085	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876088	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876091	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11169553	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169556	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12099615	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1402693	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1521515	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1521517	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1561422	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17124888	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17124907	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1815010	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2246840	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2252595	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2684886	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2684890	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2684891	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2684902	1.00[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs2684906	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap]
rs2700486	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803181	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3825401	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs4143663	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4562889	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4768862	0.86[ASN][1000 genomes]
rs4768909	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4768915	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768920	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56818625	0.86[ASN][1000 genomes]
rs57328764	0.92[ASN][1000 genomes]
rs58301497	0.90[ASN][1000 genomes]
rs59284993	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61926300	0.93[ASN][1000 genomes]
rs6580766	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7132443	0.85[ASN][1000 genomes]
rs7135222	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7301125	1.00[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs7303202	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304793	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7308872	0.90[ASN][1000 genomes]
rs7487150	0.91[ASN][1000 genomes]
rs7959129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7964642	0.92[ASN][1000 genomes]
rs7969251	0.86[ASN][1000 genomes]
rs7979474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs829133	0.83[JPT][hapmap]
rs865490	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs939631	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs951591	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3497481	chr12:51150734-51185125	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
2	esv3497482	chr12:51151798-51185232	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
3	esv3386327	chr12:51154734-51184232	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
2	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:51139600-51156000	Weak transcription	A549	lung
4	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
6	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:51142000-51156200	Weak transcription	HMEC	breast
8	chr12:51142000-51156200	Weak transcription	Osteobl	bone
9	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
10	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:51142200-51156400	Weak transcription	NH-A	brain
15	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
17	chr12:51142400-51155600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
20	chr12:51143600-51155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
22	chr12:51143800-51156000	Weak transcription	Thymus	Thymus
23	chr12:51143800-51156200	Weak transcription	Fetal Lung	lung
24	chr12:51144000-51156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:51144400-51156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:51144600-51155800	Weak transcription	Liver	Liver
27	chr12:51144600-51156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:51144600-51156200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:51144600-51156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:51144600-51156800	Weak transcription	Lung	lung
31	chr12:51144800-51156000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:51144800-51156200	Weak transcription	Primary T cells from cord blood	blood
33	chr12:51144800-51156200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:51145000-51156800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:51145400-51156200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:51145400-51156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:51145400-51156200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:51145800-51155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:51146000-51156400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:51146000-51156800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:51146400-51156000	Weak transcription	GM12878-XiMat	blood
44	chr12:51147400-51155800	Weak transcription	Left Ventricle	heart
45	chr12:51149000-51157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:51150000-51156200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:51151200-51155200	Weak transcription	K562	blood
48	chr12:51152400-51155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:51152600-51155600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:51154400-51155200	Enhancers	Primary B cells from cord blood	blood

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