Variant report

Variant	rs73691318
Chromosome Location	chr8:68258078-68258079
allele	A/G
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	POLR2A	chr8:68258021-68258122	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68256543..68259078-chr8:68260057..68264184,4	MCF-7	breast:
2	chr8:68182907..68185887-chr8:68256451..68259285,2	K562	blood:

Variant related genes	Relation type
ARFGEF1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73691320	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68254000-68258400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:68256600-68258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:68256600-68262400	Weak transcription	Spleen	Spleen
4	chr8:68257000-68258600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:68257000-68258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr8:68257000-68258800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:68257000-68259000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr8:68257000-68259000	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:68257000-68259200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:68257000-68259200	Weak transcription	Thymus	Thymus
11	chr8:68257000-68259800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:68257000-68260400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:68257200-68258200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:68257200-68258200	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:68257200-68258200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:68257200-68258600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:68257200-68258600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr8:68257200-68258800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:68257200-68259000	Weak transcription	Fetal Lung	lung
20	chr8:68257200-68259200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:68257200-68259600	Weak transcription	HMEC	breast
22	chr8:68257200-68260000	Weak transcription	Liver	Liver
23	chr8:68257200-68261200	Weak transcription	K562	blood
24	chr8:68257200-68261600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:68257200-68268600	Weak transcription	Primary T cells from cord blood	blood
26	chr8:68257400-68258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:68257600-68258800	Weak transcription	Fetal Heart	heart
28	chr8:68257600-68261200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:68257800-68258200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:68257800-68258200	Enhancers	Dnd41	blood
31	chr8:68257800-68258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:68257800-68258400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:68257800-68258800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:68257800-68260400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:68258000-68258200	Genic enhancers	Fetal Stomach	stomach
36	chr8:68258000-68258200	Enhancers	Small Intestine	intestine
37	chr8:68258000-68258400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:68258000-68258800	Weak transcription	NHDF-Ad	bronchial
39	chr8:68258000-68259000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:68258000-68259200	Enhancers	HUES64 Cell Line	embryonic stem cell

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