Variant report

Variant	rs28430630
Chromosome Location	chr4:129764738-129764739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129730787..129735075-chr4:129762435..129766332,7	K562	blood:
2	chr4:129730787..129732850-chr4:129762435..129765070,2	K562	blood:
3	chr4:129764059..129767011-chr4:129767338..129770023,2	MCF-7	breast:
4	chr4:129760491..129763213-chr4:129764575..129766528,2	K562	blood:
5	chr4:129760081..129764752-chr4:129766854..129770363,4	K562	blood:

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10006958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10008441	0.85[AFR][1000 genomes]
rs10015538	0.88[AFR][1000 genomes]
rs10026447	0.88[AFR][1000 genomes]
rs28434631	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28624232	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9307610	0.88[AFR][1000 genomes]
rs9991702	0.88[AFR][1000 genomes]
rs9996611	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv517249	chr4:129738328-129927804	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129746800-129770200	Weak transcription	HMEC	breast
2	chr4:129747000-129766600	Weak transcription	NHEK	skin
3	chr4:129753000-129766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:129753200-129767600	Weak transcription	Colonic Mucosa	Colon
5	chr4:129753400-129766000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:129753400-129767600	Weak transcription	Fetal Brain Male	brain
7	chr4:129753600-129767600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:129753600-129798600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:129753800-129770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:129753800-129795000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:129754400-129770600	Weak transcription	Fetal Kidney	kidney
12	chr4:129755400-129764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:129757000-129770000	Weak transcription	Small Intestine	intestine
14	chr4:129757200-129765000	Weak transcription	Spleen	Spleen
15	chr4:129757200-129765200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:129757200-129768200	Weak transcription	Fetal Lung	lung
17	chr4:129757400-129765000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:129757400-129765600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:129757400-129766000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:129757400-129766200	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:129760400-129764800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:129760400-129783400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:129761400-129767400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:129761400-129767400	Strong transcription	Osteobl	bone
25	chr4:129761400-129768000	Strong transcription	Primary B cells from cord blood	blood
26	chr4:129761600-129766200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:129761600-129766200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:129761600-129769000	Enhancers	Right Atrium	heart
29	chr4:129761600-129770800	Strong transcription	NHDF-Ad	bronchial
30	chr4:129761600-129779400	Strong transcription	Fetal Stomach	stomach
31	chr4:129761600-129782000	Strong transcription	Fetal Intestine Small	intestine
32	chr4:129761600-129785000	Strong transcription	Thymus	Thymus
33	chr4:129761800-129775000	Strong transcription	GM12878-XiMat	blood
34	chr4:129762000-129782800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr4:129762200-129765800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:129762200-129773800	Strong transcription	Dnd41	blood
37	chr4:129762200-129775000	Strong transcription	Fetal Thymus	thymus
38	chr4:129762400-129771800	Strong transcription	K562	blood
39	chr4:129762400-129775000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:129762400-129775000	Strong transcription	HSMM	muscle
41	chr4:129762400-129784200	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr4:129762600-129775000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:129762600-129775400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:129762800-129766000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:129762800-129767800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:129762800-129784200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:129763000-129765200	Enhancers	Aorta	Aorta
48	chr4:129763000-129768600	Weak transcription	Fetal Heart	heart
49	chr4:129763000-129774600	Strong transcription	Primary T cells from cord blood	blood
50	chr4:129763000-129783800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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