Variant report

Variant	rs2014355
Chromosome Location	chr12:121175524-121175525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121166188..121170592-chr12:121174629..121177744,4	K562	blood:
2	chr12:121166233..121168963-chr12:121173743..121176239,2	K562	blood:
3	chr12:121174261..121175937-chr12:121403993..121406712,2	MCF-7	breast:
4	chr12:120965517..120967163-chr12:121175492..121177700,2	K562	blood:
5	chr12:121171766..121173339-chr12:121175246..121177538,2	K562	blood:
6	chr12:121169092..121171751-chr12:121174629..121176427,2	K562	blood:
7	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110871	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10431386	0.81[CEU][hapmap]
rs12828810	0.91[EUR][1000 genomes]
rs12829722	0.88[EUR][1000 genomes]
rs12832102	0.89[ASN][1000 genomes]
rs1799958	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066938	1.00[CEU][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs2239758	0.93[EUR][1000 genomes]
rs2393778	0.84[EUR][1000 genomes]
rs34030695	0.91[EUR][1000 genomes]
rs34673751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34708625	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35525135	0.87[EUR][1000 genomes]
rs35599677	0.88[EUR][1000 genomes]
rs35771722	0.91[EUR][1000 genomes]
rs36066142	0.92[ASN][1000 genomes]
rs3861791	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3916	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3999408	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs71454661	0.85[EUR][1000 genomes]
rs7306541	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7313271	0.90[EUR][1000 genomes]
rs9204	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolite levels	20037589	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2014355	IL31	cis	cerebellum	SCAN
rs2014355	UNC119B	cis	parietal	SCAN
rs2014355	SPPL3	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164200-121176400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:121164400-121176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:121164400-121176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
8	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:121165000-121176000	Weak transcription	Fetal Heart	heart
12	chr12:121165000-121177800	Weak transcription	A549	lung
13	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
14	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
15	chr12:121166000-121176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
17	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:121168400-121179200	Weak transcription	HepG2	liver
19	chr12:121168600-121175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:121168600-121176200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
23	chr12:121168800-121176400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:121169000-121175600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:121169000-121176000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:121169000-121176000	Weak transcription	Dnd41	blood
30	chr12:121169000-121176000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:121169000-121176200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:121169000-121176200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:121169000-121176400	Weak transcription	Brain Anterior Caudate	brain
34	chr12:121169000-121176600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:121169000-121176800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:121169000-121177600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:121169000-121177600	Weak transcription	Fetal Lung	lung
38	chr12:121169000-121178400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:121169000-121178400	Weak transcription	Osteobl	bone
40	chr12:121169000-121178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:121169200-121176200	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:121169200-121178200	Weak transcription	Brain Germinal Matrix	brain
43	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
46	chr12:121169400-121175800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:121171000-121178000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:121171800-121177600	Strong transcription	Fetal Intestine Large	intestine
49	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
50	chr12:121172400-121175600	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links