Variant report

Variant	rs612258
Chromosome Location	chr15:44182718-44182719
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44182362..44184469-chr15:44216144..44217956,2	K562	blood:
2	chr15:44177766..44179908-chr15:44181955..44184452,3	K562	blood:
3	chr15:44174484..44176010-chr15:44181557..44184168,2	K562	blood:
4	chr15:44181550..44183106-chr15:44304322..44306363,2	K562	blood:
5	chr15:44180371..44182941-chr15:44183225..44186140,3	K562	blood:

Variant related genes	Relation type
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12438668	1.00[AMR][1000 genomes]
rs2059625	1.00[EUR][1000 genomes]
rs2447200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2447214	1.00[AMR][1000 genomes];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]
rs2915787	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2929276	1.00[EUR][1000 genomes]
rs2930527	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2930532	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2930534	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs35093130	1.00[EUR][1000 genomes]
rs475758	1.00[EUR][1000 genomes]
rs482124	1.00[EUR][1000 genomes]
rs483165	1.00[EUR][1000 genomes]
rs4924721	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs494774	1.00[EUR][1000 genomes]
rs56329224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs656473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171948	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
3	chr15:44162200-44186000	Weak transcription	HSMM	muscle
4	chr15:44166000-44184600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:44166400-44186600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:44166600-44183800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:44166800-44193800	Weak transcription	Spleen	Spleen
8	chr15:44166800-44196200	Weak transcription	Osteobl	bone
9	chr15:44170600-44188800	Weak transcription	NHDF-Ad	bronchial
10	chr15:44173000-44182800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr15:44173400-44183000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:44173400-44185800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:44173600-44184800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:44173800-44182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:44173800-44182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:44173800-44183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:44173800-44186200	Weak transcription	GM12878-XiMat	blood
19	chr15:44173800-44190000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:44173800-44193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:44174000-44184400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr15:44174200-44194200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:44174200-44195800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:44174200-44195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:44175600-44184400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:44176600-44192000	Weak transcription	Hela-S3	cervix
29	chr15:44176800-44193600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:44177000-44185800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:44177000-44187400	Weak transcription	Brain Substantia Nigra	brain
32	chr15:44177200-44186600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:44177200-44192000	Weak transcription	A549	lung
34	chr15:44177200-44192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:44178200-44197800	Weak transcription	NHLF	lung
36	chr15:44178400-44189400	Enhancers	Fetal Heart	heart
37	chr15:44179000-44184200	Weak transcription	Right Atrium	heart
38	chr15:44179000-44185600	Weak transcription	Dnd41	blood
39	chr15:44179000-44192000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:44179400-44182800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:44179400-44182800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:44179400-44193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:44179600-44185400	Weak transcription	NHEK	skin
44	chr15:44179800-44183200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:44179800-44184600	Weak transcription	Thymus	Thymus
46	chr15:44179800-44186400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:44180000-44182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:44180000-44183200	Weak transcription	Right Ventricle	heart
49	chr15:44180000-44186200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr15:44180000-44195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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