Variant report

Variant	rs59317220
Chromosome Location	chr10:45921866-45921867
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45920912..45922715-chr10:45926382..45929027,2	K562	blood:
2	chr10:45916737..45919807-chr10:45921818..45926405,4	K562	blood:
3	chr10:45920838..45922715-chr10:45925739..45927882,2	K562	blood:

Variant related genes	Relation type
ENSG00000012779	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12765209	0.90[ASN][1000 genomes]
rs17157784	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157883	0.90[ASN][1000 genomes]
rs2129644	0.90[ASN][1000 genomes]
rs2306814	0.90[ASN][1000 genomes]
rs28395867	1.00[EUR][1000 genomes]
rs3740110	0.90[ASN][1000 genomes]
rs3780902	0.91[ASN][1000 genomes]
rs3780904	1.00[ASN][1000 genomes]
rs3802547	0.85[ASN][1000 genomes]
rs3824614	1.00[ASN][1000 genomes]
rs41426046	0.87[ASN][1000 genomes]
rs41519248	0.90[ASN][1000 genomes]
rs73283191	0.91[ASN][1000 genomes]
rs73283196	0.91[ASN][1000 genomes]
rs74130824	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv895110	chr10:45912771-45953767	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45915600-45923200	Enhancers	Fetal Thymus	thymus
2	chr10:45916600-45922200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr10:45916600-45922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:45916600-45923000	Weak transcription	Right Ventricle	heart
5	chr10:45916600-45924400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:45916600-45949200	Weak transcription	Gastric	stomach
7	chr10:45916800-45923000	Weak transcription	Fetal Intestine Small	intestine
8	chr10:45917000-45923000	Weak transcription	Right Atrium	heart
9	chr10:45917200-45922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:45917200-45923400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:45917600-45924400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:45917800-45922800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:45918000-45923800	Weak transcription	GM12878-XiMat	blood
14	chr10:45918600-45925800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:45918600-45929200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr10:45920000-45922000	Enhancers	Primary hematopoietic stem cells	blood
17	chr10:45920000-45922000	Enhancers	Thymus	Thymus
18	chr10:45920000-45923000	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr10:45920000-45925800	Enhancers	Pancreas	Pancrea
20	chr10:45920200-45922800	Strong transcription	Primary B cells from cord blood	blood
21	chr10:45920800-45922000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:45920800-45922400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:45921000-45922000	Enhancers	Stomach Mucosa	stomach
24	chr10:45921200-45922400	Enhancers	Hela-S3	cervix
25	chr10:45921200-45922600	Enhancers	Brain Hippocampus Middle	brain
26	chr10:45921400-45922200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr10:45921400-45922600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:45921400-45922800	Enhancers	Brain Substantia Nigra	brain
29	chr10:45921400-45923800	Strong transcription	Spleen	Spleen
30	chr10:45921400-45930800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr10:45921400-45931600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr10:45921600-45922000	Enhancers	HMEC	breast
33	chr10:45921600-45922400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:45921600-45922400	Enhancers	Brain Anterior Caudate	brain
35	chr10:45921600-45923200	Weak transcription	Lung	lung
36	chr10:45921600-45925400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr10:45921600-45930400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr10:45921800-45922000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr10:45921800-45922400	Enhancers	Brain Angular Gyrus	brain
40	chr10:45921800-45925800	Strong transcription	Placenta	Placenta
41	chr10:45921800-45928600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr10:45921800-45933800	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links