Variant report

Variant	rs3203295
Chromosome Location	chr11:16761633-16761634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:16761544-16762302	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr11:16759189-16762064	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:16759099-16762017	K562	blood:	n/a	n/a
4	POLR2A	chr11:16759113-16762148	GM12878	blood:	n/a	n/a
5	SREBP1	chr11:16759183-16761709	GM12878	blood:	n/a	n/a
6	REST	chr11:16759087-16761652	H1-neurons	neurons:	n/a	chr11:16760921-16760941 chr11:16760921-16760941
7	POLR2A	chr11:16759183-16762100	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:16759127-16762273	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:16761311-16761823	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:16759102-16761882	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:16759357-16762072	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:16759028-16762227	GM12891	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16634578..16636953-chr11:16760027..16762559,3	K562	blood:
2	chr11:16759801..16761698-chr11:16777281..16779265,2	K562	blood:
3	chr11:16759049..16761712-chr11:16777478..16779237,2	MCF-7	breast:
4	chr11:16759176..16761906-chr11:17098692..17100616,2	MCF-7	breast:
5	chr11:16761361..16764357-chr11:16767480..16769884,3	MCF-7	breast:
6	chr11:16760740..16762840-chr11:16767428..16769739,2	MCF-7	breast:
7	chr11:16759714..16762827-chr11:17097720..17101099,4	K562	blood:

No data

Variant related genes	Relation type
SOX6	TF binding region
C11orf58	TF binding region
ENSG00000110700	Chromatin interaction
ENSG00000110696	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10766338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10766342	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832638	0.82[AMR][1000 genomes]
rs10832644	0.85[AMR][1000 genomes]
rs10832650	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832651	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832652	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832677	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11023985	0.85[AMR][1000 genomes]
rs11023990	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11023991	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11024014	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024029	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11024030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024037	0.81[EUR][1000 genomes]
rs11529598	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11826990	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418941	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12421422	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12421640	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392999	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472589	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1532672	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270886	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34952258	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4132991	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4237714	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4307685	0.82[AMR][1000 genomes]
rs4447141	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4756858	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4756861	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4757410	0.82[AMR][1000 genomes]
rs4757414	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4757425	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881966	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883867	0.82[AMR][1000 genomes]
rs61883868	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7481820	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9704273	0.82[AMR][1000 genomes]
rs981987	0.81[ASN][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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16759200-16761800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:16759200-16761800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:16759200-16761800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:16759200-16761800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:16759200-16761800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:16759200-16761800	Active TSS	HSMMtube	muscle
7	chr11:16759200-16762000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:16759200-16762000	Active TSS	Fetal Kidney	kidney
9	chr11:16759200-16762000	Active TSS	Right Ventricle	heart
10	chr11:16759200-16762200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:16759200-16762200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:16759200-16762200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:16759200-16762200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:16759200-16762800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:16759200-16763200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:16759400-16761800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:16759400-16761800	Active TSS	Aorta	Aorta
18	chr11:16759400-16761800	Active TSS	Fetal Intestine Large	intestine
19	chr11:16759400-16761800	Active TSS	Fetal Intestine Small	intestine
20	chr11:16759400-16761800	Active TSS	Fetal Muscle Trunk	muscle
21	chr11:16759400-16761800	Active TSS	Placenta	Placenta
22	chr11:16759400-16761800	Active TSS	Ovary	ovary
23	chr11:16759400-16761800	Active TSS	NHLF	lung
24	chr11:16759400-16762000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:16759400-16762000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:16759400-16762200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:16759600-16761800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:16759600-16761800	Active TSS	HMEC	breast
29	chr11:16760200-16762200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
30	chr11:16760400-16761800	Active TSS	Right Atrium	heart
31	chr11:16760800-16761800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr11:16760800-16761800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr11:16760800-16761800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:16760800-16761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:16760800-16762000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:16760800-16762000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr11:16760800-16762000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr11:16760800-16762000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:16760800-16762200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:16761000-16761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:16761000-16762000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:16761000-16762000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:16761000-16762200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:16761000-16762200	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr11:16761000-16762400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:16761200-16761800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:16761200-16761800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:16761200-16761800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:16761200-16761800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:16761200-16761800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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