Variant report

Variant	rs3131066
Chromosome Location	chr6:30803619-30803620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30707567..30712185-chr6:30801298..30803959,4	MCF-7	breast:
2	chr6:30582933..30584813-chr6:30802694..30804722,2	K562	blood:
3	chr6:30800474..30806072-chr6:30842215..30847924,9	K562	blood:
4	chr6:30796516..30799472-chr6:30801979..30805833,4	MCF-7	breast:
5	chr6:30800305..30802395-chr6:30802717..30804530,3	K562	blood:
6	chr6:30709350..30712510-chr6:30802787..30805110,3	MCF-7	breast:
7	chr6:30780643..30783504-chr6:30803282..30805852,2	K562	blood:

Variant related genes	Relation type
ENSG00000237775	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137312	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2394449	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2394450	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2394451	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2517582	0.82[ASN][1000 genomes]
rs2535338	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3094109	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3094720	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3095342	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3095343	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3095344	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3095346	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3095348	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3095349	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095350	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3095351	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095352	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095354	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3129990	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129993	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130649	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130650	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130651	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130652	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130653	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130655	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3130656	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130787	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130789	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130791	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130792	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130793	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130794	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130795	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130796	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3131027	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3131030	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3131031	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3132573	0.88[EUR][1000 genomes]
rs3132574	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3132575	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3132576	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3132578	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9262251	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
8	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
9	nsv526110	chr6:30800577-30810654	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30796200-30805600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:30796200-30805600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:30796400-30805200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:30796400-30805400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:30796800-30804000	Weak transcription	Fetal Heart	heart
6	chr6:30796800-30804000	Weak transcription	Fetal Lung	lung
7	chr6:30796800-30804400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:30796800-30811000	Weak transcription	Right Ventricle	heart
9	chr6:30797000-30804000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:30797000-30804000	Weak transcription	Left Ventricle	heart
11	chr6:30797000-30808400	Weak transcription	Esophagus	oesophagus
12	chr6:30797200-30804000	Weak transcription	Psoas Muscle	Psoas
13	chr6:30797200-30812000	Weak transcription	Lung	lung
14	chr6:30798000-30805600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:30798000-30805600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:30798000-30805600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:30798400-30804000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:30798400-30804000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:30798400-30809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:30798800-30804000	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:30798800-30805600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:30798800-30806200	Weak transcription	GM12878-XiMat	blood
23	chr6:30799200-30812200	Weak transcription	Spleen	Spleen
24	chr6:30799800-30805600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:30800400-30805000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:30800600-30807400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:30802000-30803800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr6:30802200-30803800	Flanking Active TSS	Dnd41	blood
29	chr6:30802200-30805000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:30802200-30805000	Enhancers	Osteobl	bone
31	chr6:30802200-30805200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:30802600-30805000	Enhancers	Placenta	Placenta
33	chr6:30802800-30804000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr6:30802800-30805400	Weak transcription	Primary B cells from cord blood	blood
35	chr6:30802800-30805400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:30802800-30805600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:30802800-30805800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:30802800-30806000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:30803000-30804000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:30803000-30805600	Weak transcription	K562	blood
41	chr6:30803000-30807400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:30803200-30804000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:30803200-30804200	Weak transcription	HSMMtube	muscle
44	chr6:30803200-30806200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:30803200-30808200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:30803200-30808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:30803200-30808800	Weak transcription	Primary T cells from cord blood	blood
48	chr6:30803200-30809200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:30803200-30809200	Weak transcription	Right Atrium	heart
50	chr6:30803200-30811400	Enhancers	Fetal Thymus	thymus

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