Variant report

Variant	rs1534849
Chromosome Location	chr8:61471404-61471405
allele	C/T
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	chr8:61471083-61471466	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RAB2A	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11987507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989127	1.00[AMR][1000 genomes]
rs11992608	1.00[AMR][1000 genomes]
rs11993479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996808	0.87[AFR][1000 genomes];1.00[AMR][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	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
2	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
3	chr8:61434800-61480600	Weak transcription	HMEC	breast
4	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
6	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:61443800-61472800	Weak transcription	Thymus	Thymus
9	chr8:61447600-61472600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:61449000-61473800	Weak transcription	HSMMtube	muscle
12	chr8:61449400-61472800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:61451400-61472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:61451400-61472400	Weak transcription	Ovary	ovary
15	chr8:61451400-61472600	Weak transcription	Fetal Stomach	stomach
16	chr8:61451400-61472600	Weak transcription	Spleen	Spleen
17	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
18	chr8:61451800-61475800	Weak transcription	Fetal Heart	heart
19	chr8:61452400-61472400	Weak transcription	Liver	Liver
20	chr8:61453400-61472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:61454600-61472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:61455000-61472600	Weak transcription	Left Ventricle	heart
23	chr8:61455800-61475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:61456200-61472800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:61457800-61475800	Weak transcription	K562	blood
26	chr8:61458200-61472800	Weak transcription	Pancreas	Pancrea
27	chr8:61458200-61480600	Weak transcription	Gastric	stomach
28	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:61459000-61472400	Weak transcription	A549	lung
30	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:61461200-61474200	Weak transcription	Fetal Kidney	kidney
32	chr8:61462400-61472400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:61462800-61474000	Weak transcription	NH-A	brain
34	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
35	chr8:61463800-61473400	Weak transcription	Psoas Muscle	Psoas
36	chr8:61466000-61474200	Weak transcription	Right Atrium	heart
37	chr8:61466200-61471600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:61466400-61472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:61466400-61472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:61466400-61473400	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
42	chr8:61466600-61474800	Weak transcription	Brain Angular Gyrus	brain
43	chr8:61467000-61471600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:61467000-61474000	Weak transcription	Brain Substantia Nigra	brain
45	chr8:61467000-61476000	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
47	chr8:61468000-61471600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:61468000-61482200	Weak transcription	Aorta	Aorta
49	chr8:61468400-61472600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:61468800-61471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links