Variant report

Variant	rs7133728
Chromosome Location	chr12:105612726-105612727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105604459..105610765-chr12:105612400..105619000,9	MCF-7	breast:
2	chr12:105608691..105610894-chr12:105612066..105614500,4	MCF-7	breast:
3	chr12:105610784..105617210-chr12:105628529..105631630,8	MCF-7	breast:
4	chr12:105608225..105613366-chr12:105619333..105624104,5	MCF-7	breast:
5	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10083185	0.83[ASW][hapmap];0.92[GIH][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10161513	1.00[ASN][1000 genomes]
rs11112381	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112389	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112410	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11559871	0.82[EUR][1000 genomes]
rs11829598	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12299366	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299391	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304384	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305766	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307372	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12308444	0.83[EUR][1000 genomes]
rs12311156	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312965	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12317637	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321518	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321534	0.87[CEU][hapmap]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3910856	0.87[CEU][hapmap]
rs56284118	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56862143	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593474	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835294	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60999193	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132816	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136453	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7138574	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7300130	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302842	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305406	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7315964	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73179990	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73179996	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73179998	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73180001	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181822	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7964184	0.96[EUR][1000 genomes]
rs7971630	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs7975787	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7978034	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7133728	KIAA1033	cis	cerebellum	SCAN
rs7133728	ARL1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105558800-105615200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:105571400-105617800	Weak transcription	K562	blood
4	chr12:105577400-105616200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:105578200-105620000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr12:105580200-105613200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:105590200-105620000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:105590400-105618800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:105591000-105619400	Strong transcription	Primary T cells from cord blood	blood
12	chr12:105594400-105614400	Weak transcription	Small Intestine	intestine
13	chr12:105595000-105612800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:105595000-105618800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:105595600-105612800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:105595800-105616600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:105596000-105617000	Strong transcription	Fetal Lung	lung
18	chr12:105596400-105621800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:105601000-105615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:105601000-105619200	Weak transcription	GM12878-XiMat	blood
22	chr12:105601400-105615800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:105604200-105616200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:105604400-105613000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:105604400-105618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:105606400-105614800	Strong transcription	Primary B cells from cord blood	blood
28	chr12:105606600-105616600	Strong transcription	Fetal Thymus	thymus
29	chr12:105606800-105617000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:105607200-105615800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:105607200-105618600	Genic enhancers	Fetal Intestine Large	intestine
32	chr12:105608000-105613400	Strong transcription	Dnd41	blood
33	chr12:105608200-105615600	Strong transcription	Fetal Brain Female	brain
34	chr12:105608400-105613000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:105608400-105613800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:105608600-105612800	Strong transcription	Brain Germinal Matrix	brain
37	chr12:105608600-105618200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:105609000-105618600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:105609200-105615200	Weak transcription	HMEC	breast
40	chr12:105609200-105620400	Genic enhancers	Fetal Intestine Small	intestine
41	chr12:105609200-105622400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:105609400-105614000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:105609400-105615200	Weak transcription	HepG2	liver
46	chr12:105609400-105618600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:105609400-105619400	Strong transcription	Osteobl	bone
48	chr12:105609600-105613800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:105610200-105613400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:105610200-105618800	Strong transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links