Variant report

Variant	rs57385185
Chromosome Location	chr6:150940841-150940842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150933927..150936291-chr6:150938696..150941603,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56115385	1.00[AMR][1000 genomes]
rs58842154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59573747	0.88[AFR][1000 genomes]
rs59898120	0.81[AFR][1000 genomes]
rs60969274	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61081754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6902794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606243	0.81[AFR][1000 genomes]
rs73606248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619627	0.84[AFR][1000 genomes]
rs73619628	0.88[AFR][1000 genomes]
rs73619632	0.88[AFR][1000 genomes]
rs73619641	0.81[AFR][1000 genomes]
rs73619644	0.81[AFR][1000 genomes]
rs73619646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73619650	0.81[AFR][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	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv464080	chr6:150923115-150941310	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv604851	chr6:150923115-150941310	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150922400-150941400	Weak transcription	Colonic Mucosa	Colon
2	chr6:150928200-150944800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:150928400-150952800	Weak transcription	Right Ventricle	heart
4	chr6:150928600-150948800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:150929400-150941400	Weak transcription	Fetal Stomach	stomach
6	chr6:150931000-150947400	Weak transcription	Placenta	Placenta
7	chr6:150935000-150943800	Weak transcription	Liver	Liver
8	chr6:150936600-150944600	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:150937000-150941400	Enhancers	Thymus	Thymus
10	chr6:150937600-150941400	Enhancers	Primary B cells from cord blood	blood
11	chr6:150938000-150941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:150938600-150941400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:150938600-150941800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr6:150938600-150942000	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:150938600-150942400	Enhancers	Brain Substantia Nigra	brain
16	chr6:150938600-150943800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr6:150938800-150941400	Weak transcription	Stomach Mucosa	stomach
18	chr6:150938800-150942000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:150939000-150944600	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:150939000-150945200	Enhancers	Adipose Nuclei	Adipose
21	chr6:150939000-150949600	Weak transcription	Pancreas	Pancrea
22	chr6:150939000-150954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:150939200-150941400	Weak transcription	Fetal Intestine Small	intestine
24	chr6:150939200-150941400	Weak transcription	Gastric	stomach
25	chr6:150939200-150942400	Enhancers	HUVEC	blood vessel
26	chr6:150939200-150944600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:150939600-150941800	Enhancers	Brain Angular Gyrus	brain
28	chr6:150939800-150948600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:150940200-150941200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:150940200-150942000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:150940200-150942000	Enhancers	Fetal Lung	lung
32	chr6:150940200-150942000	Enhancers	Right Atrium	heart
33	chr6:150940200-150942400	Enhancers	Spleen	Spleen
34	chr6:150940200-150944600	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:150940400-150941800	Enhancers	Brain Anterior Caudate	brain
36	chr6:150940400-150941800	Enhancers	Brain Hippocampus Middle	brain
37	chr6:150940400-150942000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:150940400-150943400	Genic enhancers	Fetal Thymus	thymus
39	chr6:150940600-150941200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:150940600-150941200	Enhancers	Fetal Kidney	kidney
41	chr6:150940600-150941400	Weak transcription	Lung	lung
42	chr6:150940600-150941600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:150940800-150941000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:150940800-150941200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:150940800-150941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:150940800-150942400	Enhancers	Small Intestine	intestine
47	chr6:150940800-150947400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:150940800-150948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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