Variant report

Variant	rs6757121
Chromosome Location	chr2:32449261-32449262
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	chr2:32443634..32446548-chr2:32446914..32449802,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11887441	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11887458	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11895183	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895623	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11903729	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12994869	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs13006302	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13029716	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2145038	0.81[EUR][1000 genomes]
rs35245684	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35560333	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35653492	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3851309	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs58980266	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60386495	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60906113	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6543653	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6719805	0.81[ASN][1000 genomes]
rs6726255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs71446044	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71446045	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71446054	1.00[AFR][1000 genomes]
rs71446055	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71446056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72863973	0.98[ASN][1000 genomes]
rs72863977	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580118	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[ASN][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6757121	SLC30A6	cis	parietal	SCAN
rs6757121	CLIP4	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
3	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
6	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
7	chr2:32404400-32450800	Weak transcription	Gastric	stomach
8	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
9	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
11	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:32433800-32451600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:32434600-32449800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:32435200-32451600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:32438800-32452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:32442800-32452200	Strong transcription	Liver	Liver
17	chr2:32443000-32449800	Strong transcription	Fetal Intestine Large	intestine
18	chr2:32443000-32451600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:32443200-32451600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:32444400-32451600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:32444600-32449400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:32444600-32451400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:32444600-32451400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:32444600-32452200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:32444800-32451600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:32444800-32451800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:32444800-32452600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:32444800-32452800	Weak transcription	Fetal Intestine Small	intestine
31	chr2:32445000-32449800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:32445200-32452600	Strong transcription	Placenta	Placenta
33	chr2:32445800-32451000	Weak transcription	Fetal Stomach	stomach
34	chr2:32445800-32452200	Weak transcription	Fetal Heart	heart
35	chr2:32445800-32452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:32445800-32461400	Weak transcription	Psoas Muscle	Psoas
37	chr2:32446000-32449600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:32446000-32450600	Weak transcription	Hela-S3	cervix
39	chr2:32446200-32456400	Weak transcription	NHLF	lung
40	chr2:32447000-32449800	Strong transcription	NH-A	brain
41	chr2:32447200-32449600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:32447200-32449800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:32447200-32451400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:32447200-32451600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:32447200-32451600	Strong transcription	Fetal Thymus	thymus
46	chr2:32447200-32452200	Strong transcription	Primary T cells from cord blood	blood
47	chr2:32447200-32452200	Strong transcription	Adipose Nuclei	Adipose
48	chr2:32447400-32449400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:32447400-32451600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:32447400-32451600	Strong transcription	Duodenum Mucosa	Duodenum

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