Variant report

Variant	rs60607203
Chromosome Location	chr12:31876318-31876319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10843996	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10843997	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844004	0.87[ASN][1000 genomes]
rs11051531	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11051533	0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11051548	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836998	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12317948	0.89[ASN][1000 genomes]
rs12579192	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12581747	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59292756	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
3	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:31868400-31879600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:31868800-31876400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:31868800-31880800	Weak transcription	Brain Anterior Caudate	brain
10	chr12:31868800-31881000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:31869000-31880000	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:31869000-31880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:31870000-31877600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:31870200-31877600	ZNF genes & repeats	Fetal Brain Female	brain
15	chr12:31870200-31880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:31870400-31881200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:31871800-31878200	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr12:31872000-31881200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:31872200-31876600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:31872200-31876600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:31872200-31876600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:31872200-31876600	Weak transcription	Thymus	Thymus
23	chr12:31872200-31876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:31872200-31877200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:31872200-31877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:31872200-31877200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:31872200-31877200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:31872200-31877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:31872200-31877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:31872200-31877600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:31872200-31880000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:31872200-31880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:31872200-31880600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:31872200-31880800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:31872200-31880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:31872200-31881200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:31872200-31881200	Weak transcription	Ovary	ovary
38	chr12:31872200-31881400	Weak transcription	Esophagus	oesophagus
39	chr12:31872200-31881400	Weak transcription	Gastric	stomach
40	chr12:31872600-31879600	Weak transcription	Dnd41	blood
41	chr12:31872600-31880800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:31873000-31877800	ZNF genes & repeats	Brain Germinal Matrix	brain
43	chr12:31873200-31881000	Weak transcription	Fetal Kidney	kidney
44	chr12:31873600-31876600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:31873800-31877800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:31873800-31881000	Weak transcription	Fetal Lung	lung
47	chr12:31874000-31876800	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr12:31874000-31877600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:31874000-31877600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:31874000-31878400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links