Variant report

Variant	rs381101
Chromosome Location	chr4:2803579-2803580
allele	G/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
2	chr4:2802998..2805170-chr4:2844898..2847427,2	MCF-7	breast:
3	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2802222..2807121-chr4:2932653..2939222,7	K562	blood:
6	chr4:2801461..2803747-chr4:2835834..2839289,3	MCF-7	breast:
7	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
8	chr4:2765422..2767575-chr4:2802842..2804463,2	K562	blood:
9	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109736	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11933325	0.81[AFR][1000 genomes]
rs11947904	0.81[AFR][1000 genomes]
rs172998	0.82[ASN][1000 genomes]
rs1751848	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs190160	0.82[ASN][1000 genomes]
rs231334	0.82[ASN][1000 genomes]
rs231339	0.97[ASN][1000 genomes]
rs365569	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs382379	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs392479	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs408102	0.80[ASN][1000 genomes]
rs438524	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7677047	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2796000-2803600	Enhancers	Fetal Brain Male	brain
2	chr4:2796000-2803800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:2796200-2803600	Enhancers	Fetal Brain Female	brain
4	chr4:2796200-2813800	Enhancers	Left Ventricle	heart
5	chr4:2796600-2803600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:2796600-2814600	Enhancers	Stomach Mucosa	stomach
7	chr4:2796800-2803600	Enhancers	NHDF-Ad	bronchial
8	chr4:2796800-2803800	Enhancers	HUVEC	blood vessel
9	chr4:2797000-2803800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:2798000-2803800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:2798400-2809600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:2798600-2803800	Enhancers	Fetal Lung	lung
13	chr4:2799000-2803600	Enhancers	Fetal Heart	heart
14	chr4:2799200-2803800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr4:2799200-2803800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr4:2799600-2803600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr4:2799600-2803800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:2799800-2803600	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:2800200-2803600	Enhancers	NH-A	brain
20	chr4:2800600-2803600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:2801000-2803800	Enhancers	Liver	Liver
22	chr4:2801200-2804000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:2801600-2803800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:2801600-2803800	Enhancers	Fetal Thymus	thymus
25	chr4:2801800-2803600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:2801800-2803600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:2801800-2803600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:2801800-2803800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr4:2801800-2804000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:2801800-2809800	Enhancers	Fetal Intestine Large	intestine
31	chr4:2802000-2803600	Enhancers	Primary T cells from cord blood	blood
32	chr4:2802200-2804800	Weak transcription	Small Intestine	intestine
33	chr4:2802200-2805200	Enhancers	Fetal Intestine Small	intestine
34	chr4:2802400-2803600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr4:2802400-2804000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr4:2802400-2804600	Enhancers	Placenta	Placenta
37	chr4:2802600-2803600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr4:2802600-2803800	Enhancers	Fetal Stomach	stomach
39	chr4:2802600-2804000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:2802600-2804000	Enhancers	Spleen	Spleen
41	chr4:2802600-2806600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:2802800-2803800	Enhancers	Brain Anterior Caudate	brain
43	chr4:2802800-2804800	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:2802800-2808400	Weak transcription	Brain Angular Gyrus	brain
45	chr4:2802800-2808800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:2802800-2810200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:2803000-2803600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:2803000-2803600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr4:2803000-2803800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr4:2803000-2808600	Enhancers	Fetal Muscle Leg	muscle

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