Variant report

Variant	rs2894045
Chromosome Location	chr6:30733019-30733020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30731319..30733794-chr6:30880499..30882436,2	K562	blood:
2	chr6:30732229..30734221-chr6:30735941..30738002,2	K562	blood:
3	chr6:30731381..30733806-chr6:30851379..30853167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204580	Chromatin interaction
ENSG00000137411	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11757629	1.00[ASN][1000 genomes]
rs1264352	0.91[ASN][1000 genomes]
rs17189329	0.87[ASN][1000 genomes]
rs3129986	0.94[ASN][1000 genomes]
rs3131062	0.94[ASN][1000 genomes]
rs3131064	0.94[ASN][1000 genomes]
rs60080450	0.81[ASN][1000 genomes]
rs6926530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9262207	0.97[ASN][1000 genomes]
rs9262211	0.97[ASN][1000 genomes]
rs9262215	0.97[ASN][1000 genomes]
rs9262216	0.97[ASN][1000 genomes]
rs9262217	0.97[ASN][1000 genomes]
rs9262218	0.97[ASN][1000 genomes]
rs9262219	0.94[ASN][1000 genomes]
rs9468824	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30720600-30736600	Weak transcription	Gastric	stomach
2	chr6:30726800-30739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:30728000-30737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:30728200-30736400	Weak transcription	Lung	lung
5	chr6:30728200-30736600	Weak transcription	Aorta	Aorta
6	chr6:30731000-30734600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:30731000-30735600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:30731000-30738800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:30731200-30734600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:30731600-30735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:30731800-30734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:30731800-30734200	Weak transcription	Spleen	Spleen
13	chr6:30732000-30733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:30732000-30734000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:30732000-30734000	Weak transcription	Pancreas	Pancrea
16	chr6:30732000-30734000	Weak transcription	Right Atrium	heart
17	chr6:30732000-30735200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:30732000-30735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:30732000-30735400	Weak transcription	Thymus	Thymus
20	chr6:30732000-30736200	Weak transcription	Esophagus	oesophagus
21	chr6:30732000-30736400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:30732000-30736400	Weak transcription	Brain Anterior Caudate	brain
23	chr6:30732000-30736600	Weak transcription	HSMM	muscle
24	chr6:30732000-30736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:30732200-30733400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:30732200-30733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:30732200-30733800	Weak transcription	Right Ventricle	heart
28	chr6:30732200-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:30732200-30734200	Weak transcription	GM12878-XiMat	blood
30	chr6:30732200-30734400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:30732200-30734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:30732200-30734800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:30732200-30735400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:30732200-30735600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:30732200-30736200	Weak transcription	NHLF	lung
36	chr6:30732200-30736400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:30732200-30736400	Weak transcription	NHDF-Ad	bronchial
38	chr6:30732200-30736600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:30732200-30736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:30732200-30737000	Weak transcription	Fetal Lung	lung
41	chr6:30732400-30733200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr6:30732400-30733200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:30732400-30733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:30732400-30733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:30732400-30734000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:30732400-30734000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:30732400-30734000	Weak transcription	Left Ventricle	heart
48	chr6:30732400-30734000	Weak transcription	Stomach Mucosa	stomach
49	chr6:30732400-30734000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:30732400-30734000	Weak transcription	NH-A	brain

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