Variant report

Variant	rs34432857
Chromosome Location	chr6:27685825-27685826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27658926..27663446-chr6:27685398..27690588,6	K562	blood:
2	chr6:27684698..27689044-chr6:27689656..27693289,4	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10484399	0.85[EUR][1000 genomes]
rs13192965	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13193480	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13193542	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13194781	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13195636	0.83[EUR][1000 genomes]
rs13195728	0.89[EUR][1000 genomes]
rs13199649	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13199772	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13199906	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13202291	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13202295	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13202775	0.91[EUR][1000 genomes]
rs13209332	0.83[EUR][1000 genomes]
rs13210634	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13212318	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13212651	0.85[EUR][1000 genomes]
rs13215275	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13217620	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13218875	1.00[AFR][1000 genomes]
rs17695758	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17749927	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17750747	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17751184	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17763089	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34064842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34105070	0.91[EUR][1000 genomes]
rs34194357	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34409918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34706883	0.89[EUR][1000 genomes]
rs34718920	0.89[EUR][1000 genomes]
rs34788973	0.82[EUR][1000 genomes]
rs34965299	0.83[EUR][1000 genomes]
rs35037868	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35202262	1.00[AFR][1000 genomes]
rs35339855	1.00[AFR][1000 genomes]
rs35501037	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35715914	0.98[EUR][1000 genomes]
rs35819751	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs35848276	0.83[EUR][1000 genomes]
rs36116761	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs425335	1.00[AFR][1000 genomes]
rs45509595	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs56405707	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61742093	0.82[EUR][1000 genomes]
rs66785117	0.83[EUR][1000 genomes]
rs66868086	0.85[EUR][1000 genomes]
rs67040724	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs67101035	0.89[EUR][1000 genomes]
rs67652222	0.96[EUR][1000 genomes]
rs71559038	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71559050	0.89[EUR][1000 genomes]
rs71559054	0.82[EUR][1000 genomes]
rs72845046	0.96[EUR][1000 genomes]
rs72845070	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72847313	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv601204	chr6:27655564-27689502	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv601205	chr6:27656255-27730064	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv3327708	chr6:27683503-27692934	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34432857	ZFP57	Cis_chr	lymphoblastoid	RTeQTL
rs34432857	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs34432857	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27662800-27688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:27662800-27688600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:27662800-27689000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:27663000-27688600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:27663200-27688400	Weak transcription	HMEC	breast
6	chr6:27663400-27687800	Weak transcription	NHEK	skin
7	chr6:27671400-27687200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:27671600-27688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:27673600-27687600	Weak transcription	Fetal Intestine Small	intestine
10	chr6:27674600-27687000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:27678800-27689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:27679200-27686600	Weak transcription	Fetal Brain Male	brain
13	chr6:27679400-27688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:27681200-27686600	Weak transcription	K562	blood
15	chr6:27681200-27687000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:27681200-27687200	Weak transcription	HepG2	liver
17	chr6:27681200-27688200	Weak transcription	A549	lung
18	chr6:27681200-27688600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:27681200-27688600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:27681200-27688600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:27681200-27688800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:27681200-27688800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:27681400-27686200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:27681600-27692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:27681800-27686000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:27681800-27686000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:27681800-27686400	Weak transcription	GM12878-XiMat	blood
28	chr6:27681800-27687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:27681800-27688600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:27682000-27688600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:27682200-27686800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:27682200-27687200	Weak transcription	Fetal Intestine Large	intestine
33	chr6:27682400-27688400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:27682400-27688600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:27682600-27687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:27682800-27687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:27682800-27688600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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