Variant report

Variant	rs73396577
Chromosome Location	chr15:41026762-41026763
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	chr15:41024400..41027311-chr15:41063021..41065498,2	K562	blood:
2	chr15:41026566..41029766-chr15:41030549..41035170,5	K562	blood:

Variant related genes	Relation type
ENSG00000137824	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12323939	1.00[AMR][1000 genomes]
rs45494798	1.00[AMR][1000 genomes]
rs56979580	1.00[AMR][1000 genomes]
rs58614880	1.00[AMR][1000 genomes]
rs59154296	1.00[AMR][1000 genomes]
rs59648663	1.00[AMR][1000 genomes]
rs60223077	1.00[AMR][1000 genomes]
rs73384327	1.00[AMR][1000 genomes]
rs73394730	1.00[AMR][1000 genomes]
rs73394786	1.00[AMR][1000 genomes]
rs73396569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904099	chr15:40949526-41041875	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv527234	chr15:40987725-41031686	Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40988000-41030000	Weak transcription	Pancreas	Pancrea
2	chr15:40988200-41028600	Weak transcription	Spleen	Spleen
3	chr15:40988400-41027200	Weak transcription	Primary B cells from cord blood	blood
4	chr15:40988400-41031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40998800-41038000	Weak transcription	Stomach Mucosa	stomach
6	chr15:40999000-41027600	Weak transcription	Gastric	stomach
7	chr15:41008200-41046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:41012800-41028200	Weak transcription	NHLF	lung
9	chr15:41014600-41029600	Weak transcription	Esophagus	oesophagus
10	chr15:41016600-41027400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:41019200-41035600	Weak transcription	Fetal Heart	heart
12	chr15:41019400-41028600	Weak transcription	Fetal Brain Male	brain
13	chr15:41019400-41036000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:41019400-41046200	Strong transcription	Fetal Stomach	stomach
15	chr15:41019600-41027000	Weak transcription	Small Intestine	intestine
16	chr15:41019600-41036200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:41019600-41036200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:41020000-41027800	Weak transcription	Psoas Muscle	Psoas
19	chr15:41020000-41029800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr15:41020000-41036000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:41020000-41043600	Strong transcription	Dnd41	blood
22	chr15:41020200-41027800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:41020200-41030600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:41020400-41027200	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:41020400-41027600	Weak transcription	Left Ventricle	heart
26	chr15:41020400-41027800	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:41020400-41028000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:41020400-41028200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:41020400-41028200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:41020400-41035600	Strong transcription	K562	blood
31	chr15:41020400-41035800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:41020400-41036000	Strong transcription	Fetal Thymus	thymus
33	chr15:41020400-41037600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:41020600-41029600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:41020600-41030800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:41020600-41030800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:41020600-41033600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:41020600-41036000	Strong transcription	Placenta	Placenta
39	chr15:41020600-41036800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:41020600-41037800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr15:41020600-41038200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:41020800-41027200	Strong transcription	Hela-S3	cervix
43	chr15:41020800-41032600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:41020800-41035600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:41020800-41035600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:41020800-41045400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr15:41021000-41028600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:41021200-41027600	Weak transcription	NHDF-Ad	bronchial
49	chr15:41021400-41030200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr15:41021400-41033400	Strong transcription	Fetal Brain Female	brain

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