Variant report

Variant	rs17880248
Chromosome Location	chr1:92264410-92264411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92262741..92265780-chr1:92267189..92269576,3	K562	blood:
2	chr1:92258357..92261493-chr1:92263209..92266078,3	K562	blood:
3	chr1:92258357..92261637-chr1:92263209..92266078,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11165144	1.00[EUR][1000 genomes]
rs11165243	1.00[EUR][1000 genomes]
rs11165480	1.00[EUR][1000 genomes]
rs11165483	1.00[EUR][1000 genomes]
rs11466564	1.00[EUR][1000 genomes]
rs12057280	1.00[EUR][1000 genomes]
rs12075049	1.00[EUR][1000 genomes]
rs12080220	1.00[EUR][1000 genomes]
rs12084293	1.00[EUR][1000 genomes]
rs12091118	1.00[EUR][1000 genomes]
rs12095721	1.00[EUR][1000 genomes]
rs12096228	1.00[EUR][1000 genomes]
rs17131517	1.00[EUR][1000 genomes]
rs17881865	1.00[EUR][1000 genomes]
rs17884660	1.00[EUR][1000 genomes]
rs2799528	1.00[EUR][1000 genomes]
rs57491683	1.00[EUR][1000 genomes]
rs72967166	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92248200-92268800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:92248600-92268800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:92254000-92269400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:92257600-92279400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:92257800-92269600	Weak transcription	A549	lung
6	chr1:92258000-92264600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:92258000-92268400	Weak transcription	Fetal Thymus	thymus
8	chr1:92258200-92269400	Weak transcription	Hela-S3	cervix
9	chr1:92258400-92264600	Weak transcription	Fetal Intestine Large	intestine
10	chr1:92258400-92271400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:92258600-92264600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:92258600-92268600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:92258600-92270000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:92258800-92272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:92260400-92271200	Strong transcription	HepG2	liver
16	chr1:92260800-92268800	Weak transcription	Small Intestine	intestine
17	chr1:92261800-92268600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:92262200-92268400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:92262200-92269200	Weak transcription	Fetal Kidney	kidney
20	chr1:92262200-92269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:92262600-92265800	Enhancers	Right Ventricle	heart
22	chr1:92262800-92265800	Enhancers	Left Ventricle	heart
23	chr1:92262800-92277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:92263000-92264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:92263000-92265400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:92263000-92265600	Enhancers	Right Atrium	heart
27	chr1:92263000-92265800	Enhancers	Ovary	ovary
28	chr1:92263000-92266200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:92263000-92268000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:92263000-92269200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:92263000-92269600	Weak transcription	Liver	Liver
32	chr1:92263000-92270000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:92263200-92265000	Enhancers	Lung	lung
34	chr1:92263200-92265200	Enhancers	Placenta	Placenta
35	chr1:92263200-92265600	Enhancers	Adipose Nuclei	Adipose
36	chr1:92263200-92265800	Enhancers	NHDF-Ad	bronchial
37	chr1:92263200-92268600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:92263400-92265600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:92263400-92266000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:92263600-92264600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:92263600-92264800	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:92263600-92265000	Enhancers	Brain Angular Gyrus	brain
43	chr1:92263600-92265400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr1:92263600-92265600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:92263600-92265600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:92263600-92265600	Enhancers	Fetal Muscle Leg	muscle
47	chr1:92263600-92265600	Genic enhancers	Fetal Stomach	stomach
48	chr1:92263600-92265600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:92263600-92265800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr1:92263600-92266400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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