Variant report

Variant	rs28375913
Chromosome Location	chr7:103014580-103014581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103013069..103015927-chr7:103026206..103029016,2	K562	blood:
2	chr7:103014337..103016156-chr7:103016846..103018427,2	K562	blood:
3	chr7:103014337..103016382-chr7:103016846..103018523,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1476678	1.00[GIH][hapmap]
rs17156420	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4286873	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6942876	0.93[ASW][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6975450	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28375913	LOC643837	trans	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102989800-103021200	Weak transcription	Fetal Heart	heart
2	chr7:103005000-103014800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:103009000-103014800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:103009000-103014800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:103009000-103014800	Weak transcription	Aorta	Aorta
6	chr7:103009000-103014800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:103009000-103014800	Weak transcription	Right Ventricle	heart
8	chr7:103009000-103014800	Weak transcription	A549	lung
9	chr7:103009000-103017200	Weak transcription	Fetal Brain Male	brain
10	chr7:103009000-103019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:103009000-103021000	Weak transcription	Gastric	stomach
12	chr7:103009000-103021000	Weak transcription	Pancreas	Pancrea
13	chr7:103009000-103021200	Weak transcription	Fetal Lung	lung
14	chr7:103009000-103029200	Weak transcription	Spleen	Spleen
15	chr7:103009200-103014600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:103009200-103014800	Weak transcription	Primary T cells from cord blood	blood
17	chr7:103009200-103015400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:103009200-103018000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:103009200-103020800	Weak transcription	HepG2	liver
20	chr7:103009600-103014800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:103010000-103019000	Weak transcription	K562	blood
22	chr7:103010400-103014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:103010600-103014800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:103010800-103015000	Weak transcription	NH-A	brain
25	chr7:103010800-103021000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:103011200-103014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:103011200-103014600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:103011200-103014800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:103011200-103015200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:103011200-103019600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:103011400-103014800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:103011400-103014800	Weak transcription	Adipose Nuclei	Adipose
33	chr7:103011600-103014800	Weak transcription	Fetal Thymus	thymus
34	chr7:103013800-103015200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:103014200-103014600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:103014400-103015000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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