Variant report

Variant	rs11831670
Chromosome Location	chr12:50055890-50055891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50053639..50056299-chr12:50060265..50061800,2	K562	blood:
2	chr12:50020139..50023155-chr12:50054271..50057275,3	K562	blood:
3	chr12:50048898..50051795-chr12:50055733..50057406,4	K562	blood:
4	chr12:50052702..50054208-chr12:50054254..50056732,2	K562	blood:
5	chr12:50054459..50059214-chr12:50133848..50137587,7	K562	blood:
6	chr12:50054963..50057045-chr12:50065991..50068572,3	K562	blood:
7	chr12:50054340..50058502-chr12:50061913..50069673,7	K562	blood:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11169071	1.00[EUR][1000 genomes]
rs11830472	1.00[AFR][1000 genomes]
rs11831673	1.00[AFR][1000 genomes]
rs11832420	0.93[AFR][1000 genomes]
rs11833472	0.93[AFR][1000 genomes]
rs11835085	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12298123	1.00[EUR][1000 genomes]
rs12299477	1.00[EUR][1000 genomes]
rs12299743	1.00[EUR][1000 genomes]
rs12300085	1.00[EUR][1000 genomes]
rs12306942	1.00[EUR][1000 genomes]
rs12309399	1.00[EUR][1000 genomes]
rs12311319	1.00[EUR][1000 genomes]
rs12311910	1.00[EUR][1000 genomes]
rs12313583	1.00[EUR][1000 genomes]
rs12314348	1.00[EUR][1000 genomes]
rs12315746	1.00[EUR][1000 genomes]
rs12315941	1.00[EUR][1000 genomes]
rs12319527	1.00[EUR][1000 genomes]
rs12320104	1.00[EUR][1000 genomes]
rs12320612	1.00[EUR][1000 genomes]
rs12321717	1.00[EUR][1000 genomes]
rs28420769	1.00[EUR][1000 genomes]
rs3861577	0.90[AFR][1000 genomes]
rs56840810	0.90[AFR][1000 genomes]
rs57489906	0.90[AFR][1000 genomes]
rs57970210	1.00[EUR][1000 genomes]
rs58867453	1.00[EUR][1000 genomes]
rs59570650	1.00[EUR][1000 genomes]
rs59576871	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60507124	1.00[EUR][1000 genomes]
rs61227990	1.00[EUR][1000 genomes]
rs7310069	0.90[AFR][1000 genomes]
rs7960185	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7973011	0.87[AFR][1000 genomes]
rs7978381	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50031800-50056200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:50034200-50056200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:50034800-50056400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:50034800-50056600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:50035600-50056400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:50038800-50056200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:50041400-50056200	Strong transcription	NH-A	brain
9	chr12:50042400-50056400	Strong transcription	HSMM	muscle
10	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
11	chr12:50042800-50056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:50043000-50056000	Strong transcription	HSMMtube	muscle
13	chr12:50043600-50056200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:50044400-50057000	Weak transcription	Esophagus	oesophagus
15	chr12:50046400-50056800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:50046800-50056000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:50047200-50056000	Strong transcription	Osteobl	bone
18	chr12:50047400-50056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:50048000-50056400	Weak transcription	NHDF-Ad	bronchial
20	chr12:50049000-50056000	Weak transcription	Fetal Heart	heart
21	chr12:50050000-50056400	Weak transcription	HMEC	breast
22	chr12:50050800-50056200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:50051000-50058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:50052000-50056200	Genic enhancers	Lung	lung
25	chr12:50052200-50056200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:50052400-50056000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:50052400-50056000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:50052400-50056000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:50052400-50056000	Weak transcription	Colonic Mucosa	Colon
31	chr12:50052400-50056800	Weak transcription	Aorta	Aorta
32	chr12:50052400-50058400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
34	chr12:50052600-50056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:50052600-50059200	Weak transcription	Brain Germinal Matrix	brain
36	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
38	chr12:50052800-50056400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:50052800-50057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:50052800-50057000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:50053000-50056000	Enhancers	Ovary	ovary
42	chr12:50053000-50056200	Weak transcription	NHLF	lung
43	chr12:50053200-50056600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:50053600-50056000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:50053600-50060000	Enhancers	Adipose Nuclei	Adipose
46	chr12:50053800-50057200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:50053800-50059200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:50054000-50056200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr12:50054000-50056600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:50054200-50056200	Strong transcription	H1 Cell Line	embryonic stem cell

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