Variant report

Variant	rs71541172
Chromosome Location	chr6:88118837-88118838
allele	AC/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88118408..88119946-chr6:88120161..88123153,2	K562	blood:
2	chr6:88116849..88119599-chr6:88181543..88183591,3	MCF-7	breast:
3	chr6:88118527..88120089-chr6:88183181..88184775,2	MCF-7	breast:
4	chr6:88118378..88120152-chr6:88120695..88125220,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164414	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1051550	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11964198	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11964212	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11964237	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11966859	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12529410	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12529423	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12661245	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13211410	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13211836	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13217485	0.83[EUR][1000 genomes]
rs34977536	0.83[EUR][1000 genomes]
rs35332886	0.81[ASN][1000 genomes]
rs3736740	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4329082	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4707370	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4707371	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4707372	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6454611	0.82[ASN][1000 genomes]
rs6454612	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6454613	0.82[ASN][1000 genomes]
rs6454614	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6454615	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6454617	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6454621	0.81[EUR][1000 genomes]
rs6454624	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6899561	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6900397	0.83[EUR][1000 genomes]
rs6906433	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6909168	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6910429	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6912875	0.81[ASN][1000 genomes]
rs6919775	0.83[EUR][1000 genomes]
rs6920937	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6930072	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6940716	0.81[ASN][1000 genomes]
rs7746469	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7749047	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7749162	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7760108	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7761462	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7764266	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7766462	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7767220	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7773262	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7773804	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs926946	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9294378	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9344708	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9353484	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9353486	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9353487	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9353488	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9444493	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9444494	0.85[ASN][1000 genomes]
rs9444495	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444496	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9450674	0.81[ASN][1000 genomes]
rs9450675	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450676	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450682	0.81[ASN][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	nsv1018155	chr6:88049729-88272862	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv830722	chr6:88054186-88223625	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1031961	chr6:88110401-88367006	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88116800-88119000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:88116800-88119000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:88116800-88119000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:88116800-88119000	Active TSS	NHDF-Ad	bronchial
5	chr6:88117000-88119000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:88117000-88119000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:88117000-88119000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:88117000-88119000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:88117000-88119000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:88117000-88119000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:88117000-88119000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr6:88117000-88119000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:88117000-88119000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:88117000-88119000	Active TSS	Brain Anterior Caudate	brain
15	chr6:88117000-88119000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr6:88117000-88119000	Active TSS	Rectal Smooth Muscle	rectum
17	chr6:88117000-88119000	Active TSS	K562	blood
18	chr6:88117000-88119000	Active TSS	NH-A	brain
19	chr6:88117000-88119000	Active TSS	NHLF	lung
20	chr6:88117200-88119000	Active TSS	Colon Smooth Muscle	Colon
21	chr6:88117200-88119000	Active TSS	Psoas Muscle	Psoas
22	chr6:88117400-88119000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:88117600-88119000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr6:88118400-88119000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:88118400-88119000	Flanking Active TSS	Dnd41	blood
26	chr6:88118800-88119000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:88118800-88119000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:88118800-88119000	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:88118800-88119000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:88118800-88119000	Enhancers	Primary T cells from cord blood	blood
31	chr6:88118800-88119000	Active TSS	Primary hematopoietic stem cells	blood
32	chr6:88118800-88119000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:88118800-88119000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:88118800-88119000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr6:88118800-88119000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr6:88118800-88119000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:88118800-88119000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:88118800-88119000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr6:88118800-88119000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:88118800-88119000	Active TSS	Liver	Liver
41	chr6:88118800-88119000	Enhancers	Hela-S3	cervix
42	chr6:88118800-88119000	Active TSS	HMEC	breast
43	chr6:88118800-88119000	Active TSS	NHEK	skin
44	chr6:88118800-88119200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:88118800-88119200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr6:88118800-88119200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:88118800-88119200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:88118800-88119200	Enhancers	Fetal Thymus	thymus
49	chr6:88118800-88119400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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