Variant report

Variant	rs836184
Chromosome Location	chr12:50462918-50462919
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50367709..50369586-chr12:50462445..50464458,2	MCF-7	breast:
2	chr12:50461826..50464798-chr12:50477927..50479451,2	K562	blood:
3	chr12:50454474..50457351-chr12:50461340..50464136,2	K562	blood:
4	chr12:50452088..50458692-chr12:50460164..50465883,8	K562	blood:

Variant related genes	Relation type
ENSG00000110881	Chromatin interaction
ENSG00000066117	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17124514	1.00[CEU][hapmap]
rs376184	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs386469	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs393848	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs404751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs439171	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs450423	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs484951	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4898546	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs590460	0.89[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs613066	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs653576	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs685012	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs706789	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs706794	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs835591	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs835593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs835594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs836178	0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs836185	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs836186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844359	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs860699	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr12:50451400-50464000	Weak transcription	Fetal Lung	lung
2	chr12:50451800-50464200	Weak transcription	Gastric	stomach
3	chr12:50452000-50464200	Weak transcription	A549	lung
4	chr12:50452200-50464000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:50452600-50464000	Weak transcription	Esophagus	oesophagus
6	chr12:50454600-50464200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:50454800-50464000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:50455600-50464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:50455800-50464000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:50456600-50463800	Weak transcription	Dnd41	blood
11	chr12:50457400-50464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:50458200-50478200	Weak transcription	Thymus	Thymus
13	chr12:50458800-50463800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:50459600-50463800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:50459600-50465000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:50459800-50463800	Weak transcription	Fetal Brain Male	brain
17	chr12:50460000-50464000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:50460200-50464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:50460200-50464000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:50460200-50464200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:50460400-50464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:50460400-50464000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:50460400-50464000	Weak transcription	Right Atrium	heart
24	chr12:50460600-50463800	Weak transcription	Brain Anterior Caudate	brain
25	chr12:50460600-50463800	Weak transcription	Hela-S3	cervix
26	chr12:50460600-50464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:50460600-50464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:50460600-50464000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:50460600-50464000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:50460600-50464000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:50460600-50464000	Weak transcription	Brain Substantia Nigra	brain
32	chr12:50460600-50464000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:50460600-50464000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:50460600-50464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:50460600-50464200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:50460600-50464200	Weak transcription	NH-A	brain
37	chr12:50460600-50465800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:50460600-50466000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:50460600-50469200	Weak transcription	Psoas Muscle	Psoas
40	chr12:50460600-50469400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:50460800-50464000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:50460800-50464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:50460800-50464000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:50460800-50464000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:50460800-50464000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:50460800-50464000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:50460800-50464000	Weak transcription	Osteobl	bone
48	chr12:50460800-50464200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:50460800-50464200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:50460800-50464200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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