Variant report

Variant	rs72859554
Chromosome Location	chr1:10050661-10050662
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	chr1:10039534..10042218-chr1:10050029..10052647,2	K562	blood:

Variant related genes	Relation type
ENSG00000173614	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57906726	0.92[AFR][1000 genomes]
rs58342183	0.86[AFR][1000 genomes]
rs59870161	1.00[AMR][1000 genomes]
rs72859504	1.00[AFR][1000 genomes]
rs72859506	1.00[AFR][1000 genomes]
rs72859548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72859550	1.00[AFR][1000 genomes]
rs72859555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72859562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72859572	0.92[AFR][1000 genomes]
rs72859595	1.00[AMR][1000 genomes]
rs72859599	1.00[AMR][1000 genomes]
rs72859602	1.00[AMR][1000 genomes]
rs72861420	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	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
3	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	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
5	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10032800-10057000	Weak transcription	Psoas Muscle	Psoas
2	chr1:10035600-10051800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:10036800-10051200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:10037200-10054600	Weak transcription	Fetal Brain Female	brain
5	chr1:10039400-10050800	Weak transcription	Colonic Mucosa	Colon
6	chr1:10039600-10053600	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:10042600-10050800	Weak transcription	GM12878-XiMat	blood
8	chr1:10042600-10053800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:10042800-10050800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:10042800-10051200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:10042800-10051200	Weak transcription	HSMMtube	muscle
12	chr1:10042800-10051600	Weak transcription	Fetal Thymus	thymus
13	chr1:10042800-10051600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:10042800-10053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:10042800-10055600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:10042800-10056600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:10042800-10057200	Weak transcription	Gastric	stomach
18	chr1:10044200-10050800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:10044600-10050800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:10044600-10054800	Weak transcription	Fetal Intestine Large	intestine
21	chr1:10044800-10051000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:10044800-10056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:10045200-10053200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:10045400-10051600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:10045400-10056600	Weak transcription	Brain Angular Gyrus	brain
26	chr1:10045400-10057000	Weak transcription	Brain Substantia Nigra	brain
27	chr1:10045600-10056600	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:10045600-10056600	Weak transcription	Fetal Heart	heart
29	chr1:10046200-10051800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:10046200-10057000	Weak transcription	Ovary	ovary
31	chr1:10046400-10054800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:10047200-10052400	Weak transcription	Fetal Stomach	stomach
33	chr1:10049000-10054200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:10049600-10052400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:10049600-10054000	Enhancers	Adipose Nuclei	Adipose
36	chr1:10049800-10050800	Enhancers	Right Ventricle	heart
37	chr1:10049800-10050800	Enhancers	Spleen	Spleen
38	chr1:10049800-10051000	Enhancers	Placenta	Placenta
39	chr1:10049800-10051800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:10050000-10050800	Enhancers	Left Ventricle	heart
41	chr1:10050000-10050800	Enhancers	Right Atrium	heart
42	chr1:10050000-10050800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:10050000-10051200	Enhancers	Primary B cells from cord blood	blood
44	chr1:10050000-10052600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr1:10050200-10051000	Enhancers	Fetal Muscle Leg	muscle
46	chr1:10050200-10051400	Enhancers	Lung	lung
47	chr1:10050200-10051800	Enhancers	HUVEC	blood vessel
48	chr1:10050400-10050800	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:10050400-10051200	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:10050400-10051800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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