Variant report

Variant	rs6867280
Chromosome Location	chr5:36154904-36154905
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	chr5:36154815-36155003	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:36151113..36153475-chr5:36154153..36156176,2	MCF-7	breast:
2	chr5:36150463..36155255-chr5:36239958..36244873,10	K562	blood:
3	chr5:36149758..36152986-chr5:36154099..36157491,3	MCF-7	breast:
4	chr5:36150277..36153703-chr5:36154371..36162094,13	K562	blood:

Variant related genes	Relation type
RNU6-1305P	TF binding region
LMBRD2	TF binding region
ENSG00000152620	Chromatin interaction
ENSG00000164187	Chromatin interaction
ENSG00000145604	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10452459	1.00[EUR][1000 genomes]
rs10512641	1.00[EUR][1000 genomes]
rs11949914	1.00[EUR][1000 genomes]
rs11952545	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11953540	1.00[EUR][1000 genomes]
rs11959495	1.00[EUR][1000 genomes]
rs11960054	1.00[EUR][1000 genomes]
rs12109571	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1500223	1.00[EUR][1000 genomes]
rs1500225	1.00[EUR][1000 genomes]
rs16902710	1.00[EUR][1000 genomes]
rs16902726	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16902747	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16902765	1.00[EUR][1000 genomes]
rs16902789	1.00[EUR][1000 genomes]
rs16902814	1.00[EUR][1000 genomes]
rs16902829	1.00[EUR][1000 genomes]
rs16902858	1.00[EUR][1000 genomes]
rs16902910	1.00[EUR][1000 genomes]
rs16902936	1.00[EUR][1000 genomes]
rs1874182	1.00[EUR][1000 genomes]
rs1965840	1.00[EUR][1000 genomes]
rs2172777	1.00[EUR][1000 genomes]
rs2362981	1.00[EUR][1000 genomes]
rs3853244	1.00[EUR][1000 genomes]
rs3853245	1.00[EUR][1000 genomes]
rs3895887	1.00[EUR][1000 genomes]
rs4022390	1.00[EUR][1000 genomes]
rs56815690	1.00[EUR][1000 genomes]
rs57472443	1.00[EUR][1000 genomes]
rs58131800	1.00[EUR][1000 genomes]
rs59754678	1.00[EUR][1000 genomes]
rs60083069	1.00[EUR][1000 genomes]
rs61209349	1.00[EUR][1000 genomes]
rs61656343	1.00[EUR][1000 genomes]
rs6451255	1.00[EUR][1000 genomes]
rs6451267	1.00[EUR][1000 genomes]
rs6860896	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6866069	1.00[EUR][1000 genomes]
rs6869324	1.00[EUR][1000 genomes]
rs6872883	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6874771	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6875875	1.00[EUR][1000 genomes]
rs6878587	1.00[EUR][1000 genomes]
rs6881555	1.00[EUR][1000 genomes]
rs6886540	1.00[EUR][1000 genomes]
rs6887103	1.00[EUR][1000 genomes]
rs6894587	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6896114	1.00[EUR][1000 genomes]
rs6896401	1.00[EUR][1000 genomes]
rs6896576	1.00[EUR][1000 genomes]
rs6897845	1.00[EUR][1000 genomes]
rs6898451	1.00[EUR][1000 genomes]
rs73081933	1.00[EUR][1000 genomes]
rs73081942	1.00[EUR][1000 genomes]
rs73081945	1.00[EUR][1000 genomes]
rs73748793	1.00[EUR][1000 genomes]
rs73751620	1.00[EUR][1000 genomes]
rs73751622	1.00[EUR][1000 genomes]
rs766065	1.00[EUR][1000 genomes]
rs7702340	1.00[EUR][1000 genomes]
rs7705125	1.00[EUR][1000 genomes]
rs7709624	1.00[EUR][1000 genomes]
rs7710047	1.00[EUR][1000 genomes]
rs7718407	1.00[EUR][1000 genomes]
rs7719226	1.00[EUR][1000 genomes]
rs7723314	1.00[EUR][1000 genomes]
rs7725596	1.00[EUR][1000 genomes]
rs7730301	1.00[EUR][1000 genomes]
rs7730829	1.00[EUR][1000 genomes]
rs7733484	1.00[EUR][1000 genomes]
rs921022	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36152400-36155000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:36152800-36155600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
3	chr5:36153000-36156200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:36153000-36156400	Weak transcription	Aorta	Aorta
5	chr5:36153000-36156400	Transcr. at gene 5' and 3'	HSMM	muscle
6	chr5:36153200-36155000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:36153200-36156400	Weak transcription	Esophagus	oesophagus
8	chr5:36153200-36157400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:36153200-36157600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:36153200-36158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:36153200-36160800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:36153200-36164000	Weak transcription	Colonic Mucosa	Colon
13	chr5:36153400-36155200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:36153400-36156200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:36153400-36156800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:36153400-36156800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
17	chr5:36153600-36155200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:36153600-36156400	Weak transcription	Psoas Muscle	Psoas
19	chr5:36153600-36157400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:36153600-36159000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:36153800-36155000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:36153800-36155000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:36153800-36155200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:36153800-36156200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:36153800-36156400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:36153800-36158400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:36153800-36159000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:36153800-36160800	Weak transcription	Gastric	stomach
29	chr5:36153800-36162600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr5:36153800-36164000	Weak transcription	Pancreas	Pancrea
31	chr5:36153800-36184400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:36154000-36155000	Genic enhancers	Placenta	Placenta
33	chr5:36154000-36155200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:36154000-36155400	Strong transcription	NHLF	lung
35	chr5:36154000-36155800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:36154000-36155800	Weak transcription	NHDF-Ad	bronchial
37	chr5:36154000-36156000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:36154000-36156000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:36154000-36156200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:36154000-36156200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:36154000-36156200	Weak transcription	Ovary	ovary
42	chr5:36154000-36156200	Weak transcription	Right Atrium	heart
43	chr5:36154000-36156800	Genic enhancers	Fetal Intestine Small	intestine
44	chr5:36154000-36158000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr5:36154000-36158400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:36154000-36159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr5:36154000-36160600	Weak transcription	Stomach Mucosa	stomach
48	chr5:36154000-36162000	Genic enhancers	HepG2	liver
49	chr5:36154000-36162600	Genic enhancers	Fetal Intestine Large	intestine
50	chr5:36154000-36168200	Strong transcription	Primary T cells from cord blood	blood

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