Variant report

Variant	rs13278975
Chromosome Location	chr8:103114802-103114803
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	chr8:103112507..103115331-chr8:103120087..103122301,2	K562	blood:
2	chr8:103111624..103115089-chr8:103119935..103122230,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11778021	0.86[EUR][1000 genomes]
rs13278017	1.00[ASW][hapmap];0.83[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13278190	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35716983	0.82[EUR][1000 genomes]
rs35845247	0.83[EUR][1000 genomes]
rs73279695	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9642976	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13278975	TXLNG	trans	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103104800-103118800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:103106000-103117600	Weak transcription	Fetal Heart	heart
3	chr8:103108400-103118800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:103108400-103120000	Weak transcription	Gastric	stomach
5	chr8:103109800-103120000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:103110200-103117600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:103110600-103116400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:103110600-103116800	Weak transcription	GM12878-XiMat	blood
9	chr8:103110800-103115600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:103111000-103115000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:103111400-103116200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:103111400-103116800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:103111600-103116200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:103112400-103115000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:103112400-103115400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:103112400-103117800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:103112600-103115200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:103112800-103115200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:103112800-103115600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:103113000-103115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:103113000-103119600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:103113600-103116400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:103114400-103115000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:103114400-103115000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:103114400-103115000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:103114400-103115000	Active TSS	Fetal Kidney	kidney
27	chr8:103114400-103115200	Active TSS	Adipose Nuclei	Adipose
28	chr8:103114400-103115400	Enhancers	Fetal Muscle Leg	muscle
29	chr8:103114600-103115000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:103114600-103115000	Active TSS	Left Ventricle	heart
31	chr8:103114600-103115000	Flanking Active TSS	Lung	lung
32	chr8:103114600-103115200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:103114600-103115200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:103114600-103115400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:103114600-103115400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:103114600-103115400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:103114600-103116000	Enhancers	Fetal Muscle Trunk	muscle
38	chr8:103114600-103116000	Enhancers	Ovary	ovary
39	chr8:103114600-103116400	Enhancers	Fetal Brain Male	brain
40	chr8:103114600-103121400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr8:103114800-103115000	Flanking Active TSS	Fetal Brain Female	brain
42	chr8:103114800-103115000	Enhancers	Right Atrium	heart
43	chr8:103114800-103115000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:103114800-103115200	Active TSS	Psoas Muscle	Psoas
45	chr8:103114800-103115400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:103114800-103115800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:103114800-103119800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:103114800-103120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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