Variant report

Variant	rs11778021
Chromosome Location	chr8:103133356-103133357
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr8:103133048-103133360	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103088794..103091279-chr8:103132537..103134956,2	K562	blood:
2	chr8:103129718..103133992-chr8:103134805..103138306,4	MCF-7	breast:

Variant related genes	Relation type
MIR5680	TF binding region
ENSG00000266756	Chromatin interaction
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13278017	0.87[EUR][1000 genomes]
rs13278190	0.83[EUR][1000 genomes]
rs13278975	0.86[EUR][1000 genomes]
rs35716983	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73279695	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103119200-103135200	Weak transcription	Spleen	Spleen
2	chr8:103120400-103133400	Weak transcription	Fetal Brain Female	brain
3	chr8:103120400-103134200	Weak transcription	Lung	lung
4	chr8:103120400-103135400	Weak transcription	Placenta	Placenta
5	chr8:103120800-103134200	Weak transcription	Fetal Stomach	stomach
6	chr8:103121600-103133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:103123400-103134200	Weak transcription	NHDF-Ad	bronchial
8	chr8:103124800-103133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:103124800-103134000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:103126800-103134200	Weak transcription	Right Atrium	heart
11	chr8:103127000-103134200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:103127200-103133400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:103127200-103134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:103127600-103134000	Weak transcription	Fetal Kidney	kidney
15	chr8:103128000-103134400	Weak transcription	GM12878-XiMat	blood
16	chr8:103128200-103133600	Weak transcription	Fetal Brain Male	brain
17	chr8:103129000-103134800	Enhancers	Ovary	ovary
18	chr8:103129600-103134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:103129800-103134200	Weak transcription	Psoas Muscle	Psoas
20	chr8:103130000-103134800	Enhancers	Fetal Heart	heart
21	chr8:103130600-103134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:103130800-103135000	Weak transcription	Right Ventricle	heart
23	chr8:103132000-103134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:103132200-103133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:103132400-103133400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:103132400-103134200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:103132600-103133400	Enhancers	Left Ventricle	heart
28	chr8:103132600-103135000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr8:103132600-103135000	Weak transcription	Fetal Lung	lung
30	chr8:103132800-103134000	Weak transcription	Aorta	Aorta
31	chr8:103133000-103134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:103133200-103133800	Enhancers	Stomach Smooth Muscle	stomach
33	chr8:103133200-103134400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:103133200-103134600	Enhancers	Primary T cells from cord blood	blood
35	chr8:103133200-103134800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:103133200-103134800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:103133200-103134800	Enhancers	Fetal Muscle Leg	muscle
38	chr8:103133200-103134800	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links