Variant report

Variant	rs12067056
Chromosome Location	chr1:185617379-185617380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12062862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1321991	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1321992	0.95[ASN][1000 genomes]
rs16824325	0.93[ASN][1000 genomes]
rs16824329	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16824334	0.96[ASN][1000 genomes]
rs59277359	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61449902	0.81[ASN][1000 genomes]
rs73061130	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs74133224	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7535227	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185607600-185618000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:185613600-185617400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:185614000-185617400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:185614400-185617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:185614400-185617400	Enhancers	Fetal Kidney	kidney
6	chr1:185614600-185617600	Enhancers	Fetal Intestine Small	intestine
7	chr1:185614800-185617400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:185614800-185617400	Weak transcription	Placenta	Placenta
9	chr1:185615000-185617600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:185615200-185617600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:185615400-185617600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:185615400-185618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:185615600-185618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:185615800-185619400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:185616000-185617400	Enhancers	Hela-S3	cervix
16	chr1:185616000-185617600	Enhancers	Fetal Intestine Large	intestine
17	chr1:185616000-185618200	Weak transcription	Right Atrium	heart
18	chr1:185616000-185618400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:185616000-185620000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:185616200-185617600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:185616200-185619800	Weak transcription	Psoas Muscle	Psoas
22	chr1:185616400-185617600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:185616600-185617400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:185616600-185617400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:185616600-185620600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:185616800-185617400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:185617000-185617400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:185617000-185619600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:185617200-185617800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:185617200-185618800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr1:185617200-185619600	Weak transcription	NHEK	skin
32	chr1:185617200-185619800	Weak transcription	HMEC	breast
33	chr1:185617200-185620200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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