Variant report

Variant	rs12102194
Chromosome Location	chr15:42258362-42258363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42246088..42249209-chr15:42256409..42259537,4	K562	blood:
2	chr15:42194241..42196970-chr15:42258249..42260328,2	K562	blood:
3	chr15:42248315..42251677-chr15:42258247..42261480,4	MCF-7	breast:
4	chr15:42256725..42260138-chr15:42260915..42266096,6	K562	blood:
5	chr15:42256784..42260079-chr15:42260495..42266096,6	K562	blood:

Variant related genes	Relation type
ENSG00000103966	Chromatin interaction
ENSG00000246740	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16972239	1.00[EUR][1000 genomes]
rs16972253	1.00[EUR][1000 genomes]
rs16972264	1.00[EUR][1000 genomes]
rs16972274	1.00[EUR][1000 genomes]
rs16972281	1.00[EUR][1000 genomes]
rs16972286	1.00[EUR][1000 genomes]
rs16972405	1.00[EUR][1000 genomes]
rs16972704	1.00[EUR][1000 genomes]
rs17842096	1.00[EUR][1000 genomes]
rs2412653	0.83[AFR][1000 genomes]
rs28626380	1.00[EUR][1000 genomes]
rs34424865	1.00[EUR][1000 genomes]
rs34807597	1.00[EUR][1000 genomes]
rs36126315	1.00[EUR][1000 genomes]
rs61741913	1.00[EUR][1000 genomes]
rs61748710	1.00[EUR][1000 genomes]
rs61753581	1.00[EUR][1000 genomes]
rs7173832	1.00[EUR][1000 genomes]
rs7176585	1.00[EUR][1000 genomes]
rs7177717	1.00[EUR][1000 genomes]
rs7180290	1.00[EUR][1000 genomes]
rs7182959	1.00[EUR][1000 genomes]
rs72726023	0.88[AFR][1000 genomes]
rs919142	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
5	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42230400-42262200	Weak transcription	Thymus	Thymus
2	chr15:42241200-42259200	Weak transcription	Brain Anterior Caudate	brain
3	chr15:42244200-42259400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42244400-42260600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:42246200-42261800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:42246200-42261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:42246200-42262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:42246200-42262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:42246400-42258400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:42246400-42259800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:42246400-42262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:42246600-42261800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:42248600-42258400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:42248600-42263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr15:42248800-42261800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:42250000-42260000	Weak transcription	Primary T cells from cord blood	blood
17	chr15:42250200-42258400	Weak transcription	K562	blood
18	chr15:42250200-42260000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:42250200-42261800	Weak transcription	Small Intestine	intestine
20	chr15:42250400-42263600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:42250600-42258400	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:42250600-42259000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:42250600-42259200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:42250600-42259800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:42250600-42262800	Weak transcription	Aorta	Aorta
26	chr15:42250800-42259800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:42250800-42261200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:42250800-42262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:42253600-42258400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:42253800-42258400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:42253800-42259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:42254200-42259200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:42254400-42258600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:42254400-42258800	Weak transcription	NHEK	skin
35	chr15:42254600-42258400	Weak transcription	NH-A	brain
36	chr15:42254600-42258600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:42254600-42258600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:42254600-42261200	Weak transcription	Hela-S3	cervix
39	chr15:42254600-42262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:42254800-42258400	Weak transcription	Stomach Mucosa	stomach
41	chr15:42255400-42258400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:42255600-42258600	Enhancers	Fetal Heart	heart
43	chr15:42256000-42259600	Enhancers	Right Ventricle	heart
44	chr15:42256200-42262200	Enhancers	Left Ventricle	heart
45	chr15:42256800-42258600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:42256800-42258600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:42256800-42259800	Weak transcription	Fetal Intestine Large	intestine
48	chr15:42257000-42258400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:42257200-42259600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:42257400-42258400	Genic enhancers	GM12878-XiMat	blood

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