Variant report

Variant	rs3200103
Chromosome Location	chr12:32896366-32896367
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32890902..32894387-chr12:32895473..32899247,4	K562	blood:
2	chr12:32891100..32893654-chr12:32895693..32898118,3	K562	blood:
3	chr12:32894196..32896638-chr12:32898861..32900958,2	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1020670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10771983	0.82[AMR][1000 genomes]
rs10771984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10771988	0.84[ASN][1000 genomes]
rs10771989	0.84[ASN][1000 genomes]
rs10844286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844304	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10844305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10844332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10844333	0.84[ASN][1000 genomes]
rs10844334	0.84[ASN][1000 genomes]
rs10844335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10844336	0.84[ASN][1000 genomes]
rs10844337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10844338	1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs10844339	0.84[ASN][1000 genomes]
rs10844340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11052160	0.80[AMR][1000 genomes]
rs11052161	0.80[AMR][1000 genomes]
rs11052164	0.85[AMR][1000 genomes]
rs11052168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs11052176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052179	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052184	1.00[CEU][hapmap]
rs11052188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11052197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs11052199	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11052210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11052211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs11052213	0.84[ASN][1000 genomes]
rs11052214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11052217	0.84[ASN][1000 genomes]
rs11502796	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11539444	0.84[ASN][1000 genomes]
rs11539445	0.84[ASN][1000 genomes]
rs11829963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11830934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11834855	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11837120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12298252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs12307480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12307536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12317270	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12319906	0.84[AMR][1000 genomes]
rs12369487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13378050	0.83[AMR][1000 genomes]
rs17541794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1965538	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1971910	0.94[ASN][1000 genomes]
rs1971911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs2030747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs2124150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs2124151	0.84[ASN][1000 genomes]
rs2272238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs3827883	0.84[ASN][1000 genomes]
rs3956371	0.80[AMR][1000 genomes]
rs4539413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4641562	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes]
rs58298737	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6488080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7135097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7135691	0.82[AMR][1000 genomes]
rs7298030	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs7302970	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7304930	1.00[YRI][hapmap]
rs7306406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs73088891	0.84[ASN][1000 genomes]
rs7310136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7952928	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7954322	0.84[ASN][1000 genomes]
rs7955411	0.85[AMR][1000 genomes]
rs7955582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs7957603	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7957841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs7969353	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs7971327	0.83[AMR][1000 genomes]
rs7971495	0.83[AMR][1000 genomes]
rs7971644	0.83[AMR][1000 genomes]
rs7971719	0.83[AMR][1000 genomes]
rs7971794	0.85[AMR][1000 genomes]
rs7980752	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs977542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9971640	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9971662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9971708	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9971875	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1051667	chr12:32871860-32919673	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1042661	chr12:32871860-32928833	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1050779	chr12:32872999-32921973	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32835000-32902600	Weak transcription	Gastric	stomach
2	chr12:32835000-32902800	Weak transcription	Small Intestine	intestine
3	chr12:32851400-32906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:32853000-32902200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:32862600-32896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:32865000-32904400	Weak transcription	Stomach Mucosa	stomach
7	chr12:32871200-32904600	Strong transcription	Dnd41	blood
8	chr12:32871400-32905800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:32871400-32906000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32871400-32906000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:32871400-32906000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:32871400-32906200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:32871400-32906200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:32871400-32906600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:32871400-32906600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:32871400-32906800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:32871400-32907000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:32876800-32906000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:32878400-32905600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:32878600-32904600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:32878800-32906200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:32879000-32906800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:32879200-32906000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:32879600-32900600	Weak transcription	Pancreas	Pancrea
25	chr12:32879800-32896400	Weak transcription	Fetal Brain Male	brain
26	chr12:32880800-32906800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:32882200-32905000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:32882800-32906000	Strong transcription	HSMM	muscle
29	chr12:32883400-32906400	Strong transcription	Fetal Thymus	thymus
30	chr12:32883400-32906600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:32883400-32907200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:32883400-32907200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:32883600-32906400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:32883800-32897400	Strong transcription	GM12878-XiMat	blood
35	chr12:32883800-32906800	Strong transcription	Liver	Liver
36	chr12:32883800-32906800	Strong transcription	A549	lung
37	chr12:32883800-32907000	Strong transcription	Placenta	Placenta
38	chr12:32884000-32904000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:32884000-32906000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:32884000-32906800	Strong transcription	NH-A	brain
41	chr12:32884200-32906800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:32884800-32907800	Weak transcription	Esophagus	oesophagus
43	chr12:32885600-32906400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:32886600-32905400	Strong transcription	HepG2	liver
45	chr12:32886600-32905800	Strong transcription	HUVEC	blood vessel
46	chr12:32886600-32906400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:32886800-32906600	Strong transcription	Osteobl	bone
48	chr12:32887200-32905200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:32889000-32906400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr12:32889200-32896600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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