Variant report

Variant	rs6951397
Chromosome Location	chr7:128368205-128368206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10954210	0.81[CHB][hapmap]
rs12531956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6971091	0.81[CHB][hapmap]
rs745229	0.81[CHB][hapmap]

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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6951397	TMEM209	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128349400-128378600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:128349800-128378200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128349800-128378400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:128361600-128378600	Weak transcription	Right Atrium	heart
5	chr7:128366200-128374400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:128366800-128369200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:128366800-128369400	Enhancers	HMEC	breast
8	chr7:128366800-128369600	Enhancers	NHEK	skin
9	chr7:128367000-128369000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:128367000-128370200	Enhancers	HSMM	muscle
11	chr7:128367200-128369200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:128367400-128368600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:128367400-128369000	Weak transcription	Fetal Brain Male	brain
14	chr7:128367400-128370000	Weak transcription	Spleen	Spleen
15	chr7:128367600-128368800	Weak transcription	Fetal Brain Female	brain
16	chr7:128367600-128368800	Weak transcription	Fetal Lung	lung
17	chr7:128367800-128368400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:128367800-128368800	Weak transcription	HSMMtube	muscle

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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