Variant report

Variant	rs11174398
Chromosome Location	chr12:62646348-62646349
allele	C/T
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62632179..62635325-chr12:62645602..62647602,3	K562	blood:
2	chr12:62644671..62646971-chr2:11681286..11684261,2	MCF-7	breast:
3	chr12:62629680..62631494-chr12:62645421..62647480,2	MCF-7	breast:
4	chr12:62644506..62646961-chr12:62653542..62655633,3	MCF-7	breast:
5	chr12:62645529..62647531-chr12:62741957..62744563,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf61-2	chr12:62645881-62647182	ENSG00000245867

No data

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10160868	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10160955	0.95[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10431509	0.89[JPT][hapmap];0.86[AFR][1000 genomes]
rs10431510	0.89[YRI][hapmap]
rs10459253	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10506440	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10784292	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10877820	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10877824	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs10877826	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10877829	0.84[JPT][hapmap]
rs10877834	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174397	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11174399	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174408	0.88[AFR][1000 genomes]
rs11174409	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174410	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174411	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs11174412	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs11174417	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs11174418	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174424	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs11174431	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11174433	0.83[JPT][hapmap]
rs11174436	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11174437	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11174438	0.81[JPT][hapmap]
rs11174446	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11174458	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11174464	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11504122	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11830242	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs11836268	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12228015	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs12229271	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12297474	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12297480	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12308455	0.95[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12310651	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12311259	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12311279	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12314644	0.92[EUR][1000 genomes]
rs12315645	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12317437	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12318287	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1901239	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs2122660	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2131434	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs2131435	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2167287	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28526400	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3213984	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3803106	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581444	0.85[ASN][1000 genomes]
rs66507062	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67044039	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67853252	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7295013	1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7298827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7300928	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7302033	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs7309209	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73136889	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73321563	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs767391	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7953967	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7956332	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7963950	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7971588	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7974973	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7976058	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7976608	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs902971	0.84[ASN][1000 genomes]
rs9634284	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62638000-62650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:62641800-62647800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:62643400-62651200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:62643600-62652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:62644200-62646800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:62644600-62646400	Enhancers	Placenta	Placenta
7	chr12:62644800-62653000	Weak transcription	Left Ventricle	heart
8	chr12:62645000-62650200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:62645000-62653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:62645200-62646600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:62645200-62652000	Weak transcription	Fetal Kidney	kidney
12	chr12:62645200-62653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:62645400-62650000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:62645400-62650200	Weak transcription	HMEC	breast
15	chr12:62645400-62650400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:62645400-62652600	Weak transcription	NHEK	skin
17	chr12:62645400-62652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:62645400-62652800	Weak transcription	Fetal Thymus	thymus
19	chr12:62645600-62646400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:62645600-62650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:62645600-62650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:62645600-62650200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:62645600-62652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:62645800-62650200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:62645800-62650400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:62645800-62651400	Weak transcription	Primary B cells from cord blood	blood
27	chr12:62645800-62652000	Weak transcription	Dnd41	blood
28	chr12:62646000-62646400	Enhancers	GM12878-XiMat	blood
29	chr12:62646000-62646800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:62646000-62649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:62646000-62650200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:62646000-62650200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:62646000-62650200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:62646000-62652600	Weak transcription	Adipose Nuclei	Adipose
35	chr12:62646000-62652800	Weak transcription	Liver	Liver
36	chr12:62646200-62646400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:62646200-62646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:62646200-62646800	Weak transcription	K562	blood
39	chr12:62646200-62649400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:62646200-62649600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:62646200-62650200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:62646200-62650200	Weak transcription	Primary T cells from cord blood	blood
43	chr12:62646200-62650200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:62646200-62650200	Weak transcription	Ovary	ovary
45	chr12:62646200-62652600	Weak transcription	Primary T cells fromperipheralblood	blood

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