Variant report

Variant	rs1631470
Chromosome Location	chr11:75187142-75187143
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	chr11:75185809..75187737-chr11:75194465..75195996,2	K562	blood:
2	chr11:75186423..75188493-chr11:75202325..75205145,2	K562	blood:
3	chr11:75185137..75187494-chr11:75526962..75529134,2	K562	blood:
4	chr11:75186137..75188818-chr11:75245561..75247908,2	K562	blood:
5	chr11:75179585..75185021-chr11:75186117..75188825,5	K562	blood:
6	chr11:75187049..75188638-chr11:75235705..75238592,2	K562	blood:
7	chr11:75186653..75188818-chr11:75244939..75247061,2	K562	blood:
8	chr11:75186128..75188167-chr11:75208590..75210780,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1004856	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236441	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1540210	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1540211	1.00[JPT][hapmap]
rs1557471	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];1.00[ASN][1000 genomes]
rs1557474	0.93[YRI][hapmap]
rs1790147	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1790149	0.89[YRI][hapmap]
rs1790152	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1790154	0.86[YRI][hapmap]
rs1790156	0.82[AFR][1000 genomes]
rs1793410	0.90[CEU][hapmap];0.97[EUR][1000 genomes]
rs1793414	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793415	0.87[YRI][hapmap]
rs2853066	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs499613	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs504793	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs511190	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs514477	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs540269	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs544719	0.92[EUR][1000 genomes]
rs548439	0.93[EUR][1000 genomes]
rs549034	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs550881	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs566818	1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs571353	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs581007	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs589724	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs611449	0.89[YRI][hapmap]
rs623338	0.82[YRI][hapmap]
rs628972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs653673	0.89[YRI][hapmap]
rs667410	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs668727	0.89[YRI][hapmap]
rs669601	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs682292	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv993847	chr11:75176894-75187181	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75181800-75188800	Enhancers	Fetal Muscle Trunk	muscle
2	chr11:75182400-75192400	Strong transcription	Fetal Intestine Large	intestine
3	chr11:75182600-75187200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:75184200-75187800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:75184400-75188800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:75184600-75187400	Weak transcription	HSMMtube	muscle
7	chr11:75184600-75188400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:75184600-75188400	Enhancers	Fetal Thymus	thymus
9	chr11:75184800-75187400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:75184800-75188800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:75185000-75187800	Enhancers	HUVEC	blood vessel
12	chr11:75185000-75189000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:75185200-75187200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:75185200-75187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:75185200-75187600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:75185200-75187600	Enhancers	NHLF	lung
17	chr11:75185200-75187800	Enhancers	Stomach Mucosa	stomach
18	chr11:75185200-75188200	Enhancers	Spleen	Spleen
19	chr11:75185400-75187400	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:75185400-75188800	Enhancers	Lung	lung
21	chr11:75185600-75187400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:75185600-75187400	Enhancers	Fetal Lung	lung
23	chr11:75185600-75187400	Enhancers	GM12878-XiMat	blood
24	chr11:75185600-75188400	Enhancers	Right Ventricle	heart
25	chr11:75185600-75188400	Enhancers	A549	lung
26	chr11:75185600-75188600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:75185600-75189000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:75185800-75187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:75185800-75187400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:75185800-75187400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:75185800-75188800	Enhancers	Liver	Liver
32	chr11:75186000-75187400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr11:75186000-75187400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:75186000-75187400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:75186000-75187400	Flanking Active TSS	Dnd41	blood
36	chr11:75186000-75187600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:75186000-75187600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:75186000-75187800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr11:75186000-75188000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:75186000-75188200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:75186200-75187200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr11:75186200-75187200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:75186200-75187200	Enhancers	Primary T cells from cord blood	blood
44	chr11:75186200-75187200	Enhancers	NH-A	brain
45	chr11:75186200-75187400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:75186200-75187600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:75186200-75187800	Enhancers	Brain Cingulate Gyrus	brain
48	chr11:75186200-75188000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:75186200-75188200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:75186200-75188600	Enhancers	Primary T cells fromperipheralblood	blood

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