Variant report

Variant	rs7841906
Chromosome Location	chr8:61326278-61326279
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	CTCF	chr8:61326220-61326370	HMEC	breast:	n/a	n/a
2	CTCF	chr8:61326220-61326370	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr8:61326240-61326390	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr8:61326220-61326370	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr8:61326260-61326410	HMEC	breast:	n/a	chr8:61326381-61326399 chr8:61326383-61326404
6	CTCF	chr8:61326260-61326410	SAEC	small airway:	n/a	chr8:61326381-61326399 chr8:61326383-61326404
7	CTCF	chr8:61326260-61326410	K562	blood:	n/a	chr8:61326381-61326399 chr8:61326383-61326404

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61324950..61327634-chr8:61427769..61429933,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-3	chr8:61326115-61326489	ENSG00000251396
2	lnc-CA8-3	chr8:61326115-61326377	ENSG00000251396
3	lnc-CA8-3	chr8:61326115-61326377	NONHSAT126822

Variant related genes	Relation type
ENSG00000251396	TF binding region
ENSG00000251396	Chromatin interaction
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504309	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11989127	1.00[EUR][1000 genomes]
rs11992608	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16925984	1.00[CEU][hapmap]
rs16925991	1.00[CEU][hapmap]
rs16925993	1.00[CEU][hapmap]
rs16926068	1.00[CEU][hapmap]
rs16926108	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41272433	1.00[EUR][1000 genomes]
rs41337844	1.00[CEU][hapmap]
rs6991970	1.00[CEU][hapmap]
rs7011437	1.00[EUR][1000 genomes]
rs73250102	1.00[EUR][1000 genomes]
rs73251503	1.00[EUR][1000 genomes]
rs7814111	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7814995	1.00[CEU][hapmap]
rs7825186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7827147	1.00[EUR][1000 genomes]
rs7833440	1.00[CEU][hapmap]
rs7841769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61309000-61330000	Weak transcription	Right Atrium	heart
2	chr8:61324000-61327000	Enhancers	Fetal Heart	heart
3	chr8:61324800-61327000	Enhancers	Placenta	Placenta
4	chr8:61325000-61326600	Active TSS	Brain Anterior Caudate	brain
5	chr8:61325200-61326400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr8:61325200-61326400	Active TSS	Brain Angular Gyrus	brain
7	chr8:61325200-61326400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:61325200-61326600	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr8:61325200-61327000	Enhancers	Pancreas	Pancrea
10	chr8:61325200-61327200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61325400-61326400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:61325400-61326400	Enhancers	Right Ventricle	heart
13	chr8:61325400-61326600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:61325400-61326600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:61325400-61327200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:61325400-61327200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:61325600-61326400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr8:61325600-61326800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:61325600-61327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:61325600-61327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:61325600-61327000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:61325600-61330200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:61325800-61326800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:61326000-61326400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:61326000-61326400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:61326000-61326400	Active TSS	Brain Substantia Nigra	brain
27	chr8:61326000-61326400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr8:61326000-61326400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr8:61326000-61326600	Flanking Bivalent TSS/Enh	NH-A	brain
30	chr8:61326200-61326400	Active TSS	Brain Cingulate Gyrus	brain
31	chr8:61326200-61326400	Enhancers	Brain Germinal Matrix	brain
32	chr8:61326200-61326600	Enhancers	Stomach Mucosa	stomach
33	chr8:61326200-61327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:61326200-61327000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:61326200-61327000	Enhancers	Fetal Brain Male	brain
36	chr8:61326200-61327000	Enhancers	Rectal Mucosa Donor 29	rectum

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