Variant report

Variant	rs6820967
Chromosome Location	chr4:2821323-2821324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2812096..2814174-chr4:2819979..2821555,2	MCF-7	breast:
2	chr4:2819892..2821779-chr4:2853270..2855073,2	MCF-7	breast:
3	chr4:2815555..2818329-chr4:2819380..2822501,3	MCF-7	breast:
4	chr4:2744181..2746858-chr4:2819815..2821762,2	MCF-7	breast:
5	chr4:2819921..2821787-chr4:2928903..2930809,2	K562	blood:
6	chr4:2819835..2821345-chr4:2824048..2826876,2	MCF-7	breast:
7	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
8	chr4:2818848..2822289-chr4:2843327..2846796,5	MCF-7	breast:
9	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
10	chr4:2818590..2823604-chr4:2934968..2940177,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168884	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13113803	0.81[ASN][1000 genomes]
rs13137906	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1784148	0.91[ASN][1000 genomes]
rs1784149	0.91[ASN][1000 genomes]
rs2269484	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2269485	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282770	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282771	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213501	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34993433	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs370470	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs385715	0.86[ASN][1000 genomes]
rs393635	0.86[ASN][1000 genomes]
rs397292	0.89[ASN][1000 genomes]
rs402855	0.90[ASN][1000 genomes]
rs407770	0.89[ASN][1000 genomes]
rs419096	0.89[ASN][1000 genomes]
rs421714	0.96[ASN][1000 genomes]
rs422734	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs426192	0.80[EUR][1000 genomes]
rs426904	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs433030	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs445160	0.97[ASN][1000 genomes]
rs450080	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9685721	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2815600-2821600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:2815800-2821800	Weak transcription	HepG2	liver
3	chr4:2815800-2827000	Weak transcription	Fetal Heart	heart
4	chr4:2819400-2821400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:2819600-2821400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:2819800-2821400	Active TSS	NH-A	brain
7	chr4:2820000-2825000	Weak transcription	Brain Substantia Nigra	brain
8	chr4:2820400-2822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:2820400-2823200	Genic enhancers	Spleen	Spleen
10	chr4:2820400-2824200	Strong transcription	Liver	Liver
11	chr4:2820400-2827600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:2820600-2821400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:2820600-2821400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:2820600-2821400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:2820600-2821400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr4:2820600-2821400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:2820600-2821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:2820600-2821600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:2820600-2821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:2820600-2821600	Weak transcription	Esophagus	oesophagus
21	chr4:2820600-2821600	Genic enhancers	Right Ventricle	heart
22	chr4:2820600-2821600	Enhancers	GM12878-XiMat	blood
23	chr4:2820600-2821800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:2820600-2821800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:2820600-2821800	Enhancers	Fetal Thymus	thymus
26	chr4:2820600-2822000	Enhancers	Pancreas	Pancrea
27	chr4:2820600-2822400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:2820600-2822400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:2820600-2822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:2820600-2822400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:2820600-2823200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:2820600-2824200	Weak transcription	Left Ventricle	heart
33	chr4:2820600-2825400	Weak transcription	Osteobl	bone
34	chr4:2820600-2825600	Weak transcription	Brain Anterior Caudate	brain
35	chr4:2820600-2825800	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:2820600-2827200	Weak transcription	Aorta	Aorta
37	chr4:2820600-2827200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:2820600-2832400	Weak transcription	NHDF-Ad	bronchial
39	chr4:2820600-2839000	Weak transcription	Right Atrium	heart
40	chr4:2820600-2839200	Weak transcription	Brain Angular Gyrus	brain
41	chr4:2820600-2844600	Weak transcription	Psoas Muscle	Psoas
42	chr4:2820800-2821400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:2820800-2821400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:2820800-2821400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:2820800-2821400	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:2820800-2821600	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr4:2820800-2821600	Enhancers	Fetal Muscle Leg	muscle
48	chr4:2820800-2821800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:2820800-2821800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:2820800-2821800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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