Variant report

Variant	rs3094719
Chromosome Location	chr6:30844972-30844973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr6:30844851-30845960	IMR90	lung:	n/a	n/a
2	RCOR1	chr6:30843944-30845061	K562	blood:	n/a	n/a
3	POLR2A	chr6:30843996-30845945	K562	blood:	n/a	n/a
4	GTF3C2	chr6:30844586-30845851	K562	blood:	n/a	n/a
5	NR2F2	chr6:30842950-30846013	K562	blood:	n/a	n/a
6	SMC3	chr6:30844866-30846228	SK-N-SH	brain:	n/a	chr6:30845665-30845679

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30844068..30845761-chr6:30908319..30909887,2	K562	blood:
2	chr6:30844365..30846082-chr6:30868883..30871226,2	K562	blood:
3	chr6:30844198..30846831-chr6:30855109..30857991,4	K562	blood:
4	chr6:30581875..30586807-chr6:30843879..30846748,7	K562	blood:
5	chr6:30794393..30796248-chr6:30844324..30846676,2	K562	blood:
6	chr6:30582174..30584970-chr6:30843879..30846723,2	K562	blood:
7	chr6:30844233..30846807-chr6:30875461..30877284,2	MCF-7	breast:
8	chr6:30844224..30847170-chr6:30875754..30878478,2	K562	blood:
9	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
10	chr6:30707945..30712505-chr6:30840794..30847673,9	K562	blood:
11	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
12	chr6:30843383..30845810-chr6:30880379..30882936,3	K562	blood:
13	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
14	chr6:30811247..30813730-chr6:30844224..30845960,2	K562	blood:
15	chr6:30843411..30845774-chr6:30879579..30881795,2	MCF-7	breast:
16	chr6:30844121..30846194-chr6:30880539..30883879,3	K562	blood:
17	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:

No data

Variant related genes	Relation type
DDR1	TF binding region
DDR1-AS1	TF binding region
ENSG00000214894	Chromatin interaction
ENSG00000168631	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000137411	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2253705	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2517459	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2532932	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2894059	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3094108	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3095345	0.88[ASN][1000 genomes]
rs3130648	0.84[ASN][1000 genomes]
rs3130779	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130780	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3130788	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130797	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131028	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3131032	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131034	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30838800-30845000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:30838800-30845200	Weak transcription	Right Atrium	heart
3	chr6:30839800-30845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:30840000-30845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:30842400-30846000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:30842600-30845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:30842800-30845200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:30843000-30845000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:30843000-30845200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:30843000-30846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:30843200-30845200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:30843200-30845200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:30843200-30845200	Enhancers	GM12878-XiMat	blood
14	chr6:30843200-30846000	Enhancers	HMEC	breast
15	chr6:30843200-30846800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:30843400-30845200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:30843400-30845200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:30843400-30845200	Enhancers	Brain Substantia Nigra	brain
19	chr6:30843400-30845200	Enhancers	Colon Smooth Muscle	Colon
20	chr6:30843400-30845200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:30843400-30845200	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:30843400-30845200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:30843400-30845200	Enhancers	HSMMtube	muscle
24	chr6:30843400-30845200	Enhancers	HUVEC	blood vessel
25	chr6:30843400-30846000	Enhancers	Placenta	Placenta
26	chr6:30843600-30845200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:30843600-30845200	Weak transcription	Pancreas	Pancrea
28	chr6:30843600-30845200	Enhancers	Stomach Mucosa	stomach
29	chr6:30843600-30845200	Enhancers	NH-A	brain
30	chr6:30843600-30848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:30843800-30845000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:30843800-30845000	Weak transcription	Small Intestine	intestine
33	chr6:30843800-30845200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:30843800-30845200	Enhancers	Adipose Nuclei	Adipose
35	chr6:30844000-30845000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:30844000-30845200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:30844000-30845200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:30844000-30845200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:30844000-30845200	Enhancers	HSMM	muscle
40	chr6:30844000-30845600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:30844000-30846000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:30844200-30845000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:30844200-30845200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:30844200-30845200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:30844200-30845200	Weak transcription	Brain Angular Gyrus	brain
46	chr6:30844200-30845200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:30844200-30845200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:30844200-30845200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:30844200-30845200	Enhancers	Dnd41	blood
50	chr6:30844200-30845400	Weak transcription	Fetal Brain Female	brain

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