Variant report

Variant	rs28727388
Chromosome Location	chr18:29677580-29677581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29677377..29681802-chr18:29685425..29688339,4	K562	blood:
2	chr18:29671668..29674127-chr18:29674569..29677601,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16962691	1.00[AFR][1000 genomes]
rs28376309	1.00[AMR][1000 genomes]
rs28429168	1.00[AMR][1000 genomes]
rs28464735	1.00[AMR][1000 genomes]
rs28478378	1.00[AMR][1000 genomes]
rs28505817	1.00[AMR][1000 genomes]
rs28538314	1.00[AMR][1000 genomes]
rs28556958	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28596473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822754	1.00[AMR][1000 genomes]
rs7239030	1.00[AMR][1000 genomes]
rs73413957	1.00[AMR][1000 genomes]
rs73413961	1.00[AMR][1000 genomes]
rs8091726	1.00[AFR][1000 genomes]
rs9949793	1.00[AMR][1000 genomes]
rs9954827	1.00[AMR][1000 genomes]
rs9954966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9967305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909523	chr18:29645496-29679922	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29673400-29692800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29673400-29713800	Weak transcription	Spleen	Spleen
3	chr18:29673600-29678400	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr18:29673800-29678000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:29673800-29679400	Weak transcription	Gastric	stomach
6	chr18:29673800-29702000	Weak transcription	Pancreas	Pancrea
7	chr18:29673800-29714000	Weak transcription	Esophagus	oesophagus
8	chr18:29673800-29714200	Weak transcription	Ovary	ovary
9	chr18:29673800-29715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:29673800-29715200	Weak transcription	Lung	lung
11	chr18:29673800-29715800	Weak transcription	Colonic Mucosa	Colon
12	chr18:29673800-29717000	Weak transcription	HSMMtube	muscle
13	chr18:29674000-29679000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:29674000-29679600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr18:29674000-29689200	Weak transcription	Right Atrium	heart
16	chr18:29674000-29692600	Weak transcription	Placenta	Placenta
17	chr18:29674000-29712000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:29674200-29677800	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr18:29674200-29692800	Weak transcription	HSMM	muscle
20	chr18:29674200-29693000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr18:29674400-29678400	Genic enhancers	Fetal Thymus	thymus
22	chr18:29674400-29679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr18:29674600-29680800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:29674600-29695600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:29674600-29703000	Weak transcription	Osteobl	bone
26	chr18:29674600-29705600	Weak transcription	NHLF	lung
27	chr18:29674800-29689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:29675000-29680800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:29675000-29692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr18:29675000-29694600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:29675000-29717200	Weak transcription	NH-A	brain
32	chr18:29675200-29680000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr18:29675200-29692800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:29675400-29679400	Weak transcription	Psoas Muscle	Psoas
35	chr18:29675400-29681400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:29675400-29681600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:29675400-29689200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:29675400-29693200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:29675400-29693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:29675600-29678600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:29675600-29691000	Weak transcription	HUVEC	blood vessel
42	chr18:29675600-29691800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr18:29675800-29692000	Weak transcription	HMEC	breast
44	chr18:29676000-29679600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr18:29676000-29679600	Weak transcription	A549	lung
46	chr18:29676000-29681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr18:29676000-29693000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr18:29676200-29677800	Strong transcription	Fetal Intestine Large	intestine
49	chr18:29676200-29692000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:29676200-29697200	Weak transcription	NHDF-Ad	bronchial

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