Variant report

Variant	rs1115971
Chromosome Location	chr12:31836950-31836951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1072778	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743763	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771864	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843994	0.94[ASN][1000 genomes]
rs10843998	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051539	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051553	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12316119	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12819673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2200232	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2374171	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2388926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931537	0.81[ASN][1000 genomes]
rs7133297	0.81[AMR][1000 genomes]
rs7295568	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73090337	1.00[ASN][1000 genomes]
rs73090387	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7309916	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7953032	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957042	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966525	0.94[ASN][1000 genomes]
rs7968792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970095	0.94[ASN][1000 genomes]
rs7971803	0.83[EUR][1000 genomes]
rs7980264	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs900609	0.94[ASN][1000 genomes]
rs900610	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31813200-31837000	Weak transcription	Fetal Brain Male	brain
2	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
3	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:31822400-31840600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
7	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:31835000-31837200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr12:31835000-31839200	ZNF genes & repeats	Fetal Thymus	thymus
11	chr12:31835200-31837000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
12	chr12:31835200-31837200	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr12:31835200-31837200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr12:31835200-31837600	ZNF genes & repeats	Liver	Liver
15	chr12:31835200-31838000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr12:31835200-31838200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr12:31835200-31838600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:31835200-31838600	ZNF genes & repeats	Fetal Stomach	stomach
19	chr12:31835400-31837200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr12:31835400-31839000	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr12:31835400-31839200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:31835400-31841800	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr12:31835600-31837000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr12:31835600-31837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:31835600-31837200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:31835600-31837200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr12:31835600-31837200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr12:31835600-31837200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr12:31835600-31837200	ZNF genes & repeats	Fetal Lung	lung
30	chr12:31835600-31837200	ZNF genes & repeats	Dnd41	blood
31	chr12:31835600-31837400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr12:31835600-31837600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:31835600-31837800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr12:31835600-31841600	Strong transcription	Thymus	Thymus
35	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
36	chr12:31835800-31854800	Weak transcription	K562	blood
37	chr12:31836000-31837200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:31836000-31837800	ZNF genes & repeats	Ovary	ovary
39	chr12:31836000-31842600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:31836000-31857600	Weak transcription	A549	lung
41	chr12:31836200-31837200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr12:31836200-31837200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:31836200-31837400	Weak transcription	Left Ventricle	heart
44	chr12:31836200-31837600	Strong transcription	Brain Angular Gyrus	brain
45	chr12:31836200-31838400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:31836200-31840800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr12:31836400-31837200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr12:31836400-31837200	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr12:31836400-31837200	Strong transcription	Brain Substantia Nigra	brain
50	chr12:31836400-31838200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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