Variant report

Variant	rs12671593
Chromosome Location	chr7:110659489-110659490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110654683..110656937-chr7:110658000..110660146,2	K562	blood:
2	chr7:110641915..110646048-chr7:110658516..110661977,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10215530	0.86[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs10274655	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276691	0.86[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1029903	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953672	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953673	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953674	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11769641	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12705748	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2014855	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2058420	0.81[CEU][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2396301	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs259016	0.85[ASN][1000 genomes]
rs259019	0.87[ASN][1000 genomes]
rs28505381	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28711130	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2894589	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727754	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4730471	0.89[ASN][1000 genomes]
rs4730473	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55921247	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466371	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6965810	0.92[ASN][1000 genomes]
rs758953	0.81[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs7801774	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023596	chr7:109984459-110708071	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539061	chr7:109984459-110708071	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv888973	chr7:110509579-110699652	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv888974	chr7:110516659-110660055	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv2758129	chr7:110523298-110787849	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759554	chr7:110523298-110787849	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv888975	chr7:110613685-110677656	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2830178	chr7:110645431-110778571	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12671593	IMMP2L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110646200-110660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:110648400-110663800	Weak transcription	Aorta	Aorta
3	chr7:110654200-110667000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:110657200-110661000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr7:110657200-110661400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:110657600-110659600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:110657600-110660800	Enhancers	Dnd41	blood
8	chr7:110657800-110666400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:110658600-110660000	Enhancers	Fetal Intestine Large	intestine
10	chr7:110658600-110660000	Enhancers	Thymus	Thymus
11	chr7:110659000-110659600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:110659000-110659600	Enhancers	HepG2	liver
13	chr7:110659000-110659800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:110659000-110659800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:110659000-110659800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:110659000-110659800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr7:110659000-110660000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:110659000-110660000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:110659000-110660000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:110659000-110660000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:110659000-110660000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:110659000-110660000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr7:110659000-110660000	Enhancers	Fetal Intestine Small	intestine
24	chr7:110659000-110660200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:110659000-110660800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:110659200-110659600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:110659200-110659600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:110659200-110659600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:110659200-110659600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:110659200-110659600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:110659200-110659600	Enhancers	Adipose Nuclei	Adipose
32	chr7:110659200-110659600	Enhancers	Colon Smooth Muscle	Colon
33	chr7:110659200-110659600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:110659200-110659600	Enhancers	Fetal Lung	lung
35	chr7:110659200-110659600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:110659200-110659800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr7:110659200-110659800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:110659200-110659800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:110659200-110660000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:110659200-110660000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:110659200-110660800	Enhancers	Fetal Thymus	thymus
42	chr7:110659400-110659800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:110659400-110659800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:110659400-110659800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:110659400-110659800	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:110659400-110659800	Enhancers	Sigmoid Colon	Sigmoid Colon

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