Variant report

Variant	rs3130786
Chromosome Location	chr6:30807948-30807949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30806333..30810243-chr6:30843203..30846067,3	K562	blood:
2	chr6:30807011..30808968-chr6:30850726..30853143,2	MCF-7	breast:
3	chr6:30807003..30808509-chr6:30812271..30813825,2	K562	blood:
4	chr6:30805834..30810192-chr6:30850275..30853725,4	MCF-7	breast:
5	chr6:30807490..30810871-chr6:30840456..30844706,4	MCF-7	breast:
6	chr6:30806007..30809728-chr6:30842937..30845561,3	K562	blood:
7	chr6:30807490..30809248-chr6:30824608..30826344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204580	Chromatin interaction
ENSG00000237775	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]
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]
rs3131066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30796800-30811000	Weak transcription	Right Ventricle	heart
2	chr6:30797000-30808400	Weak transcription	Esophagus	oesophagus
3	chr6:30797200-30812000	Weak transcription	Lung	lung
4	chr6:30798400-30809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:30799200-30812200	Weak transcription	Spleen	Spleen
6	chr6:30803200-30808200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:30803200-30808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:30803200-30808800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:30803200-30809200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:30803200-30809200	Weak transcription	Right Atrium	heart
11	chr6:30803200-30811400	Enhancers	Fetal Thymus	thymus
12	chr6:30803200-30811400	Enhancers	Thymus	Thymus
13	chr6:30803400-30808200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:30803400-30808800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:30803400-30809400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:30803600-30808400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:30803600-30808800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:30803800-30811200	Enhancers	Dnd41	blood
19	chr6:30804600-30809800	Weak transcription	Fetal Kidney	kidney
20	chr6:30804600-30811200	Weak transcription	Adipose Nuclei	Adipose
21	chr6:30804600-30811200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:30804600-30811600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:30804800-30809000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:30805000-30809000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:30805000-30809200	Weak transcription	Left Ventricle	heart
26	chr6:30805000-30809200	Weak transcription	Osteobl	bone
27	chr6:30805000-30809400	Weak transcription	HSMMtube	muscle
28	chr6:30805000-30811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:30805200-30809000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:30805600-30809400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:30805600-30811200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:30805800-30808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:30805800-30809800	Weak transcription	Fetal Heart	heart
34	chr6:30805800-30811000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:30805800-30811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:30806000-30809200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:30806000-30809800	Weak transcription	Fetal Lung	lung
38	chr6:30806400-30808200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:30806400-30810000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:30806600-30808400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:30806600-30809000	Weak transcription	GM12878-XiMat	blood
42	chr6:30806600-30811600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:30806800-30808000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:30806800-30808600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:30806800-30808600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:30806800-30808600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:30806800-30810000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:30806800-30811400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr6:30806800-30816200	Enhancers	Placenta	Placenta
50	chr6:30807000-30808400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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