Variant report

Variant	rs1867434
Chromosome Location	chr12:40869105-40869106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11564141	0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3747892	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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv1848303	chr12:40867011-40887238	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv1850439	chr12:40867211-40887867	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv20428	chr12:40867874-40884927	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40866400-40869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:40866600-40870600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:40867200-40870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:40867400-40870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:40867600-40870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:40867800-40869600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:40868000-40869200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:40868200-40869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:40868400-40869200	Enhancers	NHEK	skin
10	chr12:40868400-40869600	Enhancers	HMEC	breast
11	chr12:40868400-40870400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:40868600-40869400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:40869000-40870200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:40869000-40870200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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