Variant report

Variant	rs73781911
Chromosome Location	chr6:144855432-144855433
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144848573..144853071-chr6:144854031..144858388,6	K562	blood:
2	chr6:144854161..144860088-chr6:144861624..144865343,8	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10080686	1.00[AMR][1000 genomes]
rs55686531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55891827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58526186	1.00[AMR][1000 genomes]
rs59904891	1.00[AMR][1000 genomes]
rs6902639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6933333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939981	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780590	0.80[AFR][1000 genomes]
rs73781905	1.00[AMR][1000 genomes]
rs73781914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7741783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7762641	1.00[AMR][1000 genomes]
rs7767272	1.00[AMR][1000 genomes]
rs7767347	1.00[AMR][1000 genomes]
rs9484882	1.00[AMR][1000 genomes]
rs9496983	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
4	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144815200-144881000	Weak transcription	NHEK	skin
6	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:144821200-144861000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:144827200-144857200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
11	chr6:144831800-144857000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr6:144832200-144856800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:144832400-144862200	Weak transcription	Small Intestine	intestine
14	chr6:144833800-144857000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:144833800-144857200	Strong transcription	Primary T cells from cord blood	blood
16	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:144835000-144856400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
19	chr6:144843200-144855800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:144843600-144857200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr6:144844400-144861400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:144844400-144870000	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:144844600-144860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:144847200-144856000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:144847200-144857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:144847600-144856400	Strong transcription	Liver	Liver
27	chr6:144847800-144857000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:144847800-144857200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:144848000-144856400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:144849000-144856000	Strong transcription	HepG2	liver
31	chr6:144849600-144856000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:144850000-144864200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:144850000-144864200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:144850200-144858600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:144850200-144877400	Weak transcription	HMEC	breast
36	chr6:144850400-144856200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:144850400-144856200	Strong transcription	Dnd41	blood
38	chr6:144850400-144857000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:144850400-144864000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:144850400-144864200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:144850400-144865600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:144850400-144866000	Weak transcription	Hela-S3	cervix
43	chr6:144850400-144903200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:144850400-144903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:144850600-144856400	Strong transcription	HSMM	muscle
47	chr6:144850600-144856600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:144850600-144862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:144850600-144863400	Weak transcription	Fetal Intestine Small	intestine
50	chr6:144850600-144863600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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