Variant report

Variant	rs61932065
Chromosome Location	chr12:31870204-31870205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:31870187-31870218	K562	blood:	n/a	n/a
2	POLR2A	chr12:31867932-31870478	K562	blood:	n/a	n/a
3	MAX	chr12:31869917-31870265	K562	blood:	n/a	n/a
4	MYC	chr12:31869381-31870225	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31868001..31870341-chr12:32112733..32115276,2	K562	blood:
2	chr12:31866804..31870237-chr12:31900678..31903673,4	K562	blood:

Variant related genes	Relation type
AMN1	TF binding region
ENSG00000256843	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11051519	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11051527	0.90[ASN][1000 genomes]
rs11051534	0.90[ASN][1000 genomes]
rs11051535	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11051536	0.91[ASN][1000 genomes]
rs11051537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051538	0.91[ASN][1000 genomes]
rs11051540	0.95[ASN][1000 genomes]
rs11051546	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11051547	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11051549	0.96[AMR][1000 genomes]
rs11051551	0.96[AMR][1000 genomes]
rs12231666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931536	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4931538	0.90[ASN][1000 genomes]
rs4931545	0.91[ASN][1000 genomes]
rs4931546	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4931547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59091295	0.98[ASN][1000 genomes]
rs61932089	0.94[AMR][1000 genomes]
rs7308889	0.86[ASN][1000 genomes]
rs7959989	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
2	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:31839800-31871800	Weak transcription	Gastric	stomach
5	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:31846400-31871800	Weak transcription	Lung	lung
7	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
8	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:31852800-31871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:31859000-31871800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:31860400-31872400	Weak transcription	Fetal Kidney	kidney
13	chr12:31860600-31874000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:31860800-31871800	Weak transcription	Ovary	ovary
15	chr12:31860800-31881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:31861000-31871800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:31862200-31880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:31862400-31871800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:31862600-31871200	Weak transcription	Fetal Lung	lung
20	chr12:31862600-31871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:31862800-31871800	Weak transcription	Aorta	Aorta
22	chr12:31862800-31874200	Weak transcription	Left Ventricle	heart
23	chr12:31864000-31871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:31865400-31871800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:31866600-31871600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:31867600-31871800	Weak transcription	Spleen	Spleen
27	chr12:31868200-31870600	Active TSS	K562	blood
28	chr12:31868200-31871800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:31868400-31879600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:31868600-31871600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:31868600-31871800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:31868600-31871800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:31868600-31874200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:31868600-31875200	Weak transcription	A549	lung
35	chr12:31868800-31871400	Weak transcription	Fetal Thymus	thymus
36	chr12:31868800-31871800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:31868800-31871800	Weak transcription	Placenta	Placenta
38	chr12:31868800-31871800	Weak transcription	Thymus	Thymus
39	chr12:31868800-31875200	Weak transcription	Brain Substantia Nigra	brain
40	chr12:31868800-31876400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:31868800-31880800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:31868800-31881000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:31869000-31871000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:31869000-31871800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:31869000-31873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:31869000-31880000	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:31869000-31880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:31869200-31871200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:31869200-31873800	Weak transcription	Stomach Mucosa	stomach
50	chr12:31869200-31874400	Weak transcription	HepG2	liver

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