Variant report

Variant	rs10843454
Chromosome Location	chr12:29786521-29786522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10843419	1.00[LWK][hapmap]
rs11050400	1.00[EUR][1000 genomes]
rs12227932	1.00[EUR][1000 genomes]
rs12230202	0.86[EUR][1000 genomes]
rs60465125	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]

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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29744400-29790800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:29744600-29791000	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:29760400-29787400	Weak transcription	Adipose Nuclei	Adipose
4	chr12:29763800-29786800	Weak transcription	Spleen	Spleen
5	chr12:29763800-29793600	Weak transcription	Right Ventricle	heart
6	chr12:29765000-29786800	Weak transcription	HSMMtube	muscle
7	chr12:29765600-29802600	Weak transcription	Psoas Muscle	Psoas
8	chr12:29770400-29792800	Weak transcription	NHLF	lung
9	chr12:29770600-29786600	Weak transcription	NHDF-Ad	bronchial
10	chr12:29771000-29791800	Weak transcription	Hela-S3	cervix
11	chr12:29771200-29786600	Weak transcription	HMEC	breast
12	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
13	chr12:29778600-29787200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:29778800-29795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:29779200-29787800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:29779400-29788000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:29779600-29787000	Weak transcription	Fetal Heart	heart
18	chr12:29780600-29787000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:29780800-29787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:29780800-29787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:29781400-29792000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:29781800-29793600	Weak transcription	Aorta	Aorta
23	chr12:29782000-29787800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:29782000-29793800	Weak transcription	Fetal Stomach	stomach
25	chr12:29782600-29786600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:29782600-29787400	Weak transcription	HSMM	muscle
27	chr12:29782600-29791200	Weak transcription	Ovary	ovary
28	chr12:29782600-29793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:29783400-29786800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:29785000-29787200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:29785200-29787400	Weak transcription	Fetal Brain Male	brain
32	chr12:29785400-29787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:29785400-29816000	Weak transcription	Esophagus	oesophagus
34	chr12:29786000-29786600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:29786200-29791600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:29786200-29792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:29786200-29793000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:29786200-29793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:29786400-29786800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:29786400-29787000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:29786400-29787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:29786400-29787200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:29786400-29787400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:29786400-29787400	Weak transcription	Left Ventricle	heart
45	chr12:29786400-29790200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:29786400-29790400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:29786400-29793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:29786400-29803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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