Variant report

Variant	rs74130824
Chromosome Location	chr10:45924884-45924885
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	chr10:45916737..45919807-chr10:45921818..45926405,4	K562	blood:
2	chr10:45917267..45919807-chr10:45924534..45926405,3	K562	blood:

Variant related genes	Relation type
ENSG00000012779	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12765209	1.00[ASN][1000 genomes]
rs17157784	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17157883	1.00[ASN][1000 genomes]
rs1811604	0.94[AFR][1000 genomes]
rs2082109	0.86[ASN][1000 genomes]
rs2082110	0.86[ASN][1000 genomes]
rs2129644	1.00[ASN][1000 genomes]
rs2306814	1.00[ASN][1000 genomes]
rs28395867	1.00[EUR][1000 genomes]
rs3740110	1.00[ASN][1000 genomes]
rs3780902	0.81[ASN][1000 genomes]
rs3780904	0.90[ASN][1000 genomes]
rs3802547	0.95[ASN][1000 genomes]
rs3824614	0.90[ASN][1000 genomes]
rs41426046	0.97[ASN][1000 genomes]
rs41519248	1.00[ASN][1000 genomes]
rs59317220	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73283191	0.81[ASN][1000 genomes]
rs73283196	0.81[ASN][1000 genomes]
rs74130835	0.98[AFR][1000 genomes]
rs74130836	0.98[AFR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45916600-45949200	Weak transcription	Gastric	stomach
2	chr10:45918600-45925800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:45918600-45929200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr10:45920000-45925800	Enhancers	Pancreas	Pancrea
5	chr10:45921400-45930800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:45921400-45931600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:45921600-45925400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:45921600-45930400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr10:45921800-45925800	Strong transcription	Placenta	Placenta
10	chr10:45921800-45928600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr10:45921800-45933800	Weak transcription	Esophagus	oesophagus
12	chr10:45922000-45925000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:45922000-45928000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:45922000-45928800	Weak transcription	Thymus	Thymus
15	chr10:45922200-45925200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:45922200-45925200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:45922400-45925200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:45923200-45925000	ZNF genes & repeats	Lung	lung
19	chr10:45923600-45925800	Enhancers	Fetal Thymus	thymus
20	chr10:45923600-45928000	Weak transcription	Right Atrium	heart
21	chr10:45923600-45928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:45923800-45925800	Strong transcription	GM12878-XiMat	blood
23	chr10:45923800-45926400	Strong transcription	Primary B cells from cord blood	blood
24	chr10:45924000-45928400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:45924000-45928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:45924200-45925000	Strong transcription	Fetal Intestine Small	intestine
27	chr10:45924200-45928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:45924600-45925000	Strong transcription	Spleen	Spleen
29	chr10:45924800-45927000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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