Variant report

Variant	rs17038024
Chromosome Location	chr12:106423918-106423919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105861881..105863943-chr12:106421999..106424753,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	1.00[EUR][1000 genomes]
rs17037848	1.00[EUR][1000 genomes]
rs17037959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34404995	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	1.00[EUR][1000 genomes]
rs7135356	1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391203	1.00[EUR][1000 genomes]
rs73391208	1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv871	chr12:106407516-106429806	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106416000-106424200	Weak transcription	Right Atrium	heart
3	chr12:106417000-106424000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:106417000-106424200	Weak transcription	Fetal Kidney	kidney
5	chr12:106419800-106424000	Weak transcription	NHDF-Ad	bronchial
6	chr12:106420800-106424200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:106421400-106427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:106421600-106424200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:106421800-106424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:106421800-106436000	Weak transcription	Fetal Brain Male	brain
11	chr12:106422800-106424000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:106422800-106424000	Enhancers	Hela-S3	cervix
13	chr12:106422800-106424200	Enhancers	HSMM	muscle
14	chr12:106422800-106427600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:106423000-106424000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:106423000-106424000	Enhancers	HUVEC	blood vessel
17	chr12:106423000-106424000	Enhancers	NH-A	brain
18	chr12:106423000-106424600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:106423000-106427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:106423200-106424000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:106423200-106424200	Weak transcription	Liver	Liver
22	chr12:106423200-106424200	Enhancers	Osteobl	bone
23	chr12:106423400-106424200	Enhancers	NHEK	skin
24	chr12:106423600-106424000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:106423600-106424000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:106423600-106425200	Flanking Active TSS	A549	lung
27	chr12:106423800-106424000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:106423800-106424000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:106423800-106424000	Enhancers	Fetal Heart	heart
30	chr12:106423800-106424200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:106423800-106424200	Flanking Active TSS	HSMMtube	muscle
32	chr12:106423800-106425000	Enhancers	HUES6 Cell Line	embryonic stem cell

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