Variant report

Variant	rs2970835
Chromosome Location	chr12:4561181-4561182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2909377	0.85[AFR][1000 genomes]
rs2909378	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136102	1.00[EUR][1000 genomes]
rs7358740	1.00[EUR][1000 genomes]
rs7963030	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv898616	chr12:4490059-4564613	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4555000-4561200	Enhancers	Fetal Muscle Leg	muscle
2	chr12:4558000-4561400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr12:4558200-4561200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:4558200-4561400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4558600-4562000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4558800-4561600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:4559000-4561200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:4559000-4561400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:4559400-4561400	Enhancers	HSMMtube	muscle
10	chr12:4560200-4561200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:4560200-4561600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:4560200-4562000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:4560400-4562000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:4560400-4562000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:4560400-4562000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:4560600-4561600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:4560600-4561800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:4560600-4562000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:4560600-4562000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:4560600-4562000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:4560800-4561200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:4561000-4561200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr12:4561000-4561400	Enhancers	Psoas Muscle	Psoas

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