Variant report

Variant	rs7080977
Chromosome Location	chr10:45917316-45917317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:45913251-45917890	GM19099	blood:	n/a	n/a
2	POLR2A	chr10:45913144-45917408	GM18526	blood:	n/a	n/a
3	POLR2A	chr10:45913219-45917686	GM18951	blood:	n/a	n/a
4	POLR2A	chr10:45913135-45918979	GM18505	blood:	n/a	n/a
5	POLR2A	chr10:45912229-45917365	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:45913278-45919692	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45916870..45919327-chr10:45931748..45934680,2	K562	blood:
2	chr10:45906072..45907665-chr10:45916489..45918577,2	K562	blood:

Variant related genes	Relation type
ALOX5	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17157771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28395866	0.91[EUR][1000 genomes]
rs3780902	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3780908	0.87[AFR][1000 genomes]
rs55661611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7077173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283191	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73283196	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73283198	0.91[AMR][1000 genomes];1.00[EUR][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45914000-45917400	Enhancers	Fetal Brain Male	brain
2	chr10:45914600-45918800	Enhancers	Dnd41	blood
3	chr10:45915200-45918600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:45915200-45919200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr10:45915600-45917400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:45915600-45917800	Enhancers	Adipose Nuclei	Adipose
7	chr10:45915600-45918400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr10:45915600-45918600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr10:45915600-45923200	Enhancers	Fetal Thymus	thymus
10	chr10:45915800-45918000	Enhancers	Primary T cells from cord blood	blood
11	chr10:45915800-45918400	Enhancers	Fetal Muscle Leg	muscle
12	chr10:45915800-45918800	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:45916200-45917400	Enhancers	Psoas Muscle	Psoas
14	chr10:45916200-45918000	Genic enhancers	Pancreas	Pancrea
15	chr10:45916400-45917400	Enhancers	Brain Anterior Caudate	brain
16	chr10:45916400-45917400	Enhancers	Brain Hippocampus Middle	brain
17	chr10:45916400-45917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:45916400-45917800	Enhancers	Colonic Mucosa	Colon
19	chr10:45916400-45918000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr10:45916400-45918200	Enhancers	Duodenum Mucosa	Duodenum
21	chr10:45916400-45918400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr10:45916400-45918800	Enhancers	Brain Germinal Matrix	brain
23	chr10:45916400-45920400	Weak transcription	Esophagus	oesophagus
24	chr10:45916400-45920600	Weak transcription	HUVEC	blood vessel
25	chr10:45916400-45921400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:45916600-45917400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:45916600-45917600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr10:45916600-45918600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:45916600-45919400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr10:45916600-45920400	Weak transcription	Left Ventricle	heart
31	chr10:45916600-45921000	Weak transcription	Stomach Mucosa	stomach
32	chr10:45916600-45921600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:45916600-45921800	Weak transcription	Brain Angular Gyrus	brain
34	chr10:45916600-45922200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr10:45916600-45922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:45916600-45923000	Weak transcription	Right Ventricle	heart
37	chr10:45916600-45924400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:45916600-45949200	Weak transcription	Gastric	stomach
39	chr10:45916800-45918400	Enhancers	Thymus	Thymus
40	chr10:45916800-45919000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr10:45916800-45919200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr10:45916800-45919200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:45916800-45921200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:45916800-45921200	Weak transcription	Hela-S3	cervix
45	chr10:45916800-45921400	Weak transcription	Brain Substantia Nigra	brain
46	chr10:45916800-45923000	Weak transcription	Fetal Intestine Small	intestine
47	chr10:45917000-45917800	Genic enhancers	Placenta	Placenta
48	chr10:45917000-45918000	Genic enhancers	Primary B cells from cord blood	blood
49	chr10:45917000-45918000	Enhancers	GM12878-XiMat	blood
50	chr10:45917000-45918600	Genic enhancers	Primary B cells from peripheral blood	blood

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