Variant report

Variant	rs475758
Chromosome Location	chr15:44174015-44174016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44167565..44169692-chr15:44173450..44175000,2	K562	blood:
2	chr15:44166573..44169668-chr15:44170032..44175321,4	K562	blood:
3	chr15:44163547..44166358-chr15:44171239..44175142,4	K562	blood:
4	chr15:44172683..44174919-chr15:44176186..44179170,4	K562	blood:

Variant related genes	Relation type
ENSG00000227973	Chromatin interaction
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2059625	1.00[EUR][1000 genomes]
rs2447200	1.00[EUR][1000 genomes]
rs2447214	1.00[EUR][1000 genomes]
rs2470123	1.00[EUR][1000 genomes]
rs2733225	1.00[EUR][1000 genomes]
rs28537381	1.00[EUR][1000 genomes]
rs2899104	1.00[EUR][1000 genomes]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	1.00[EUR][1000 genomes]
rs2930532	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930534	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4924721	1.00[EUR][1000 genomes]
rs494774	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56329224	1.00[EUR][1000 genomes]
rs612258	1.00[EUR][1000 genomes]
rs656473	1.00[EUR][1000 genomes]
rs7171948	1.00[EUR][1000 genomes]
rs893612	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
2	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr15:44144800-44181000	Weak transcription	HepG2	liver
5	chr15:44146800-44181600	Weak transcription	Gastric	stomach
6	chr15:44150600-44174600	Strong transcription	Dnd41	blood
7	chr15:44151600-44181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:44152600-44180800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
10	chr15:44158600-44180800	Weak transcription	Fetal Lung	lung
11	chr15:44162200-44186000	Weak transcription	HSMM	muscle
12	chr15:44163000-44179400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:44163400-44177200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:44164000-44175400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:44164800-44176000	Weak transcription	K562	blood
16	chr15:44165200-44174400	Strong transcription	Fetal Stomach	stomach
17	chr15:44165800-44177200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:44166000-44184600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:44166400-44186600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:44166600-44182600	Weak transcription	HUVEC	blood vessel
21	chr15:44166600-44183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:44166800-44193800	Weak transcription	Spleen	Spleen
23	chr15:44166800-44196200	Weak transcription	Osteobl	bone
24	chr15:44167400-44175800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:44168000-44180200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:44168200-44176600	Strong transcription	Hela-S3	cervix
27	chr15:44168400-44174600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:44169000-44181000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:44169800-44175200	Weak transcription	Primary T cells from cord blood	blood
30	chr15:44170200-44175200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:44170600-44188800	Weak transcription	NHDF-Ad	bronchial
32	chr15:44170800-44174200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:44170800-44180000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:44171000-44175400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:44171600-44174400	Enhancers	Brain Substantia Nigra	brain
36	chr15:44171600-44177000	Strong transcription	Fetal Brain Female	brain
37	chr15:44171600-44181400	Strong transcription	Brain Germinal Matrix	brain
38	chr15:44172200-44175800	Weak transcription	NHEK	skin
39	chr15:44172200-44176000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr15:44172600-44174200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr15:44172600-44174200	Enhancers	Brain Hippocampus Middle	brain
42	chr15:44172800-44174200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr15:44172800-44174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr15:44172800-44177600	Strong transcription	HMEC	breast
45	chr15:44173000-44175400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:44173000-44176600	Strong transcription	Fetal Thymus	thymus
47	chr15:44173000-44182800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr15:44173200-44175400	Weak transcription	Fetal Intestine Small	intestine
49	chr15:44173400-44174400	Strong transcription	NHLF	lung
50	chr15:44173400-44174800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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