Variant report

Variant	rs41280788
Chromosome Location	chr1:10133089-10133090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10002299..10003886-chr1:10132924..10134636,2	K562	blood:
2	chr1:10123267..10128743-chr1:10130766..10138737,8	K562	blood:
3	chr1:10127243..10129600-chr1:10132450..10134898,2	K562	blood:

Variant related genes	Relation type
ENSG00000228150	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000173614	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11801988	1.00[EUR][1000 genomes]
rs11803995	1.00[EUR][1000 genomes]
rs11808311	1.00[EUR][1000 genomes]
rs28671063	1.00[EUR][1000 genomes]
rs56682893	1.00[EUR][1000 genomes]
rs56760324	1.00[EUR][1000 genomes]
rs57216908	1.00[EUR][1000 genomes]
rs58453167	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61134758	0.94[EUR][1000 genomes]
rs61462323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676768	0.84[EUR][1000 genomes]
rs6693686	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6701103	1.00[EUR][1000 genomes]
rs72859590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861431	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72861447	1.00[EUR][1000 genomes]
rs72861453	1.00[EUR][1000 genomes]
rs9661116	1.00[EUR][1000 genomes]
rs9661131	1.00[EUR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
4	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:10116600-10145000	Weak transcription	Stomach Mucosa	stomach
11	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
12	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:10120000-10156400	Weak transcription	Spleen	Spleen
14	chr1:10120000-10162600	Weak transcription	Gastric	stomach
15	chr1:10120400-10134400	Weak transcription	Dnd41	blood
16	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
17	chr1:10120800-10134200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:10121800-10141400	Weak transcription	Hela-S3	cervix
19	chr1:10124400-10155200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:10124600-10140600	Weak transcription	Fetal Brain Female	brain
21	chr1:10124800-10134000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:10125800-10133600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:10125800-10133600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:10125800-10133800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:10125800-10134200	Weak transcription	Fetal Thymus	thymus
26	chr1:10125800-10165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:10125800-10165400	Weak transcription	Fetal Brain Male	brain
28	chr1:10126000-10154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:10126000-10161000	Weak transcription	A549	lung
30	chr1:10126400-10134000	Weak transcription	Lung	lung
31	chr1:10126400-10134400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:10126400-10162800	Weak transcription	Brain Germinal Matrix	brain
33	chr1:10126400-10163000	Weak transcription	Pancreas	Pancrea
34	chr1:10126400-10165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:10126800-10134800	Weak transcription	Small Intestine	intestine
36	chr1:10127000-10133200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:10127000-10133400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:10127000-10134600	Weak transcription	Right Ventricle	heart
39	chr1:10127400-10133200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:10127400-10135000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:10127600-10133600	Weak transcription	K562	blood
42	chr1:10127600-10134200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:10127600-10134200	Weak transcription	HepG2	liver
44	chr1:10127600-10134400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:10127800-10133200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:10127800-10133200	Weak transcription	NHDF-Ad	bronchial
47	chr1:10127800-10133800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:10127800-10133800	Weak transcription	HSMM	muscle
49	chr1:10127800-10133800	Weak transcription	NHLF	lung
50	chr1:10127800-10134000	Weak transcription	Brain Angular Gyrus	brain

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