Variant report

Variant	rs3094105
Chromosome Location	chr6:30602414-30602415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30581846..30586345-chr6:30599769..30603372,4	MCF-7	breast:
2	chr6:30601918..30605372-chr6:30687012..30690435,4	K562	blood:
3	chr6:30598934..30603301-chr6:30608761..30613584,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000196230	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1264422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs14350	1.00[EUR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394393	1.00[EUR][1000 genomes]
rs2429643	1.00[EUR][1000 genomes]
rs2517562	1.00[EUR][1000 genomes]
rs2517563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2534688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844707	1.00[EUR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094107	1.00[EUR][1000 genomes]
rs3129999	1.00[EUR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]
rs9262217	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
8	nsv969376	chr6:30601427-30608408	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30593600-30613800	Weak transcription	Hela-S3	cervix
2	chr6:30595200-30607000	Weak transcription	Right Atrium	heart
3	chr6:30595200-30609000	Weak transcription	Colonic Mucosa	Colon
4	chr6:30595400-30607800	Weak transcription	Right Ventricle	heart
5	chr6:30595400-30608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:30595400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:30595400-30614000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:30595400-30614800	Weak transcription	Small Intestine	intestine
9	chr6:30595600-30605200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:30595600-30608000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr6:30595600-30608200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:30595600-30608600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:30595600-30611000	Weak transcription	Primary B cells from cord blood	blood
14	chr6:30595600-30613000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:30595600-30613800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:30595600-30614200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr6:30595600-30614200	Strong transcription	Fetal Stomach	stomach
18	chr6:30595600-30614200	Weak transcription	Psoas Muscle	Psoas
19	chr6:30595600-30614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:30595800-30603200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:30595800-30604200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:30595800-30608200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:30595800-30608800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:30595800-30613000	Strong transcription	Fetal Lung	lung
25	chr6:30595800-30613600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:30595800-30613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:30595800-30614000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:30595800-30614200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:30596000-30602800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:30596000-30604200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:30596000-30605200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:30596000-30605400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:30596000-30605800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:30596000-30613800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:30596000-30613800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:30596000-30614000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:30596000-30614000	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:30596000-30614200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:30596200-30606600	Strong transcription	Brain Germinal Matrix	brain
40	chr6:30596200-30610600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:30596200-30611600	Strong transcription	Fetal Intestine Small	intestine
42	chr6:30596200-30612600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:30596200-30613600	Weak transcription	Fetal Heart	heart
44	chr6:30596200-30613600	Weak transcription	HUVEC	blood vessel
45	chr6:30596200-30614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:30596200-30614200	Strong transcription	Fetal Brain Female	brain
47	chr6:30597000-30608000	Weak transcription	Fetal Brain Male	brain
48	chr6:30597800-30608200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:30598000-30607600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:30598000-30607600	Weak transcription	Fetal Kidney	kidney

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