Variant report

Variant	rs6914184
Chromosome Location	chr6:56408583-56408584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56302630..56305077-chr6:56407760..56410392,2	MCF-7	breast:
2	chr6:56330615..56332340-chr6:56407927..56409613,2	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11753813	0.82[EUR][1000 genomes]
rs11756977	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12527139	0.82[EUR][1000 genomes]
rs13194746	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13219448	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1535610	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1535612	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16887974	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2064591	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273973	0.80[EUR][1000 genomes]
rs4130060	0.81[EUR][1000 genomes]
rs4143827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143828	0.85[EUR][1000 genomes]
rs4236139	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4236140	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236141	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4236142	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4236143	0.83[EUR][1000 genomes]
rs4236144	0.85[EUR][1000 genomes]
rs4236145	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4329120	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4346846	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4454141	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4466244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4472350	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4473850	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4499917	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4712132	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4712133	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4715626	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715627	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4715629	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4715630	0.82[EUR][1000 genomes]
rs4715631	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6904202	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6906792	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6907917	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6919608	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6922770	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6939305	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71549713	0.80[AMR][1000 genomes]
rs721475	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7741295	0.81[EUR][1000 genomes]
rs7743011	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7749370	0.82[ASN][1000 genomes]
rs7755361	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7755573	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7758054	0.82[EUR][1000 genomes]
rs7759875	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760640	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760695	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7761281	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7762629	0.84[EUR][1000 genomes]
rs9296849	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9296850	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9349826	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9357921	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9357922	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9382635	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9396218	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9396220	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9464389	0.81[EUR][1000 genomes]
rs9475709	0.82[EUR][1000 genomes]
rs9475711	0.81[ASN][1000 genomes]
rs9475713	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9475714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56407200-56408600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr6:56407800-56409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:56408000-56409000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:56408200-56408600	Enhancers	Liver	Liver
5	chr6:56408200-56408600	Enhancers	Brain Hippocampus Middle	brain
6	chr6:56408200-56408600	Enhancers	Fetal Intestine Small	intestine
7	chr6:56408200-56408600	Enhancers	HSMMtube	muscle
8	chr6:56408200-56409000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:56408200-56409000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:56408200-56409000	Enhancers	Brain Substantia Nigra	brain
11	chr6:56408200-56409000	Enhancers	Fetal Lung	lung
12	chr6:56408200-56409000	Enhancers	HSMM	muscle
13	chr6:56408200-56409200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:56408200-56409400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:56408200-56409400	Enhancers	Fetal Heart	heart
16	chr6:56408200-56409400	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:56408200-56409400	Enhancers	NH-A	brain
18	chr6:56408200-56409600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:56408200-56409600	Enhancers	Colon Smooth Muscle	Colon
20	chr6:56408200-56409800	Enhancers	Osteobl	bone
21	chr6:56408200-56411800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:56408200-56412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:56408200-56413000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:56408200-56413400	Weak transcription	NHLF	lung
25	chr6:56408200-56414600	Weak transcription	Aorta	Aorta
26	chr6:56408200-56415200	Weak transcription	Right Atrium	heart
27	chr6:56408200-56415400	Weak transcription	Ovary	ovary
28	chr6:56408200-56416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:56408200-56416600	Weak transcription	Left Ventricle	heart
30	chr6:56408200-56416800	Weak transcription	Brain Germinal Matrix	brain
31	chr6:56408200-56416800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:56408200-56417000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:56408200-56417000	Weak transcription	Fetal Brain Female	brain
34	chr6:56408200-56417200	Weak transcription	Fetal Brain Male	brain
35	chr6:56408200-56417400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:56408200-56419400	Weak transcription	Placenta	Placenta
37	chr6:56408200-56419800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:56408400-56408600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:56408400-56408600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:56408400-56408600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:56408400-56408600	Weak transcription	A549	lung
45	chr6:56408400-56408600	Enhancers	Hela-S3	cervix
46	chr6:56408400-56408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:56408400-56408800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:56408400-56408800	Weak transcription	Brain Anterior Caudate	brain
49	chr6:56408400-56408800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:56408400-56408800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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