Variant report

Variant	rs17741655
Chromosome Location	chr2:127431312-127431313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127430614..127433355-chr2:127436468..127438269,2	K562	blood:
2	chr2:127430249..127432742-chr2:127444629..127446893,2	K562	blood:
3	chr2:127430614..127434258-chr2:127435312..127438269,3	K562	blood:

Variant related genes	Relation type
ENSG00000235128	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10166038	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13395599	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13398914	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28387126	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28387130	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28387137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28387146	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28387172	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28387177	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28387184	0.94[AMR][1000 genomes];0.93[EUR][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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1813823	chr2:127417657-127441005	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv875008	chr2:127426754-127436469	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17741655	CYP27C1	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
4	chr2:127423800-127432600	Weak transcription	Thymus	Thymus
5	chr2:127423800-127433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:127424000-127432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:127424200-127431800	Weak transcription	Fetal Thymus	thymus
8	chr2:127424200-127451000	Weak transcription	NHLF	lung
9	chr2:127424400-127432000	Strong transcription	Primary B cells from cord blood	blood
10	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:127425600-127432600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:127425800-127432400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:127425800-127432600	Strong transcription	Primary T cells from cord blood	blood
14	chr2:127426000-127433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:127426400-127432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:127426800-127431600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:127426800-127432000	Weak transcription	GM12878-XiMat	blood
18	chr2:127427000-127432200	Enhancers	Fetal Heart	heart
19	chr2:127427000-127434600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:127427200-127431400	Genic enhancers	Fetal Muscle Leg	muscle
21	chr2:127427400-127432200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:127427400-127433000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:127427400-127434200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:127427600-127431600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:127427600-127432800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:127427800-127431400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:127427800-127432200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:127427800-127432800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:127428000-127431400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
31	chr2:127428400-127431600	Strong transcription	Fetal Stomach	stomach
32	chr2:127428400-127432000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:127428400-127434400	Weak transcription	Esophagus	oesophagus
34	chr2:127428600-127432200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:127428800-127432600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:127429000-127431800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:127429000-127432600	Weak transcription	Pancreas	Pancrea
38	chr2:127429000-127432800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:127429200-127431400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:127429400-127431400	Weak transcription	Lung	lung
42	chr2:127429400-127431400	Strong transcription	Ovary	ovary
43	chr2:127429400-127431600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:127429400-127434200	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:127430000-127431600	Enhancers	Left Ventricle	heart
46	chr2:127430000-127432200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:127430000-127434000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr2:127430200-127432000	Strong transcription	Aorta	Aorta
49	chr2:127430200-127432600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:127430200-127433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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