Variant report

Variant	rs28477763
Chromosome Location	chr4:8384074-8384075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8380856..8382490-chr4:8382492..8384875,2	MCF-7	breast:
2	chr4:8383597..8386239-chr4:8397040..8399494,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10017273	1.00[AMR][1000 genomes]
rs10023885	1.00[AMR][1000 genomes]
rs28749188	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
2	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:8360400-8395600	Weak transcription	NHEK	skin
4	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
5	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:8364200-8387000	Weak transcription	Dnd41	blood
7	chr4:8364800-8387000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:8365000-8385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:8365200-8385000	Weak transcription	NHLF	lung
11	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:8366800-8386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:8366800-8390000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:8367400-8384800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:8367400-8386800	Weak transcription	Primary B cells from cord blood	blood
17	chr4:8367800-8384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:8368400-8388400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:8368800-8384200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:8368800-8386600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:8368800-8388800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:8372200-8387000	Strong transcription	Pancreas	Pancrea
23	chr4:8372600-8389800	Strong transcription	Esophagus	oesophagus
24	chr4:8372800-8385000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:8373000-8385000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr4:8373000-8388200	Weak transcription	Osteobl	bone
27	chr4:8373200-8384800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
29	chr4:8374800-8386800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:8376200-8386400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:8376400-8386600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:8376600-8384200	Strong transcription	Aorta	Aorta
34	chr4:8376600-8386200	Weak transcription	Brain Angular Gyrus	brain
35	chr4:8377000-8388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:8377400-8385200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:8378000-8391800	Strong transcription	Fetal Brain Female	brain
38	chr4:8378400-8385600	Weak transcription	NH-A	brain
39	chr4:8378600-8384800	Weak transcription	HSMM	muscle
40	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:8378600-8398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:8378800-8397800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:8379000-8395400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:8379200-8384800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:8379400-8392000	Strong transcription	Brain Hippocampus Middle	brain
46	chr4:8379600-8388400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:8380600-8385600	Genic enhancers	Right Ventricle	heart
48	chr4:8381000-8393800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:8381200-8386400	Weak transcription	Gastric	stomach
50	chr4:8381200-8387600	Genic enhancers	Fetal Muscle Trunk	muscle

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