Variant report

Variant	rs57311028
Chromosome Location	chr12:20363400-20363401
allele	A/G
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]
rs11831329	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1427995	0.96[ASN][1000 genomes]
rs60147570	0.96[ASN][1000 genomes]
rs74064880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74064881	0.96[ASN][1000 genomes]

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	nsv1035141	chr12:20286595-20429040	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv557700	chr12:20346383-20379710	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv898857	chr12:20359670-20423727	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20356000-20364600	Weak transcription	Aorta	Aorta
2	chr12:20356400-20365400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:20356600-20364600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:20358400-20364200	Weak transcription	Fetal Intestine Small	intestine
5	chr12:20359400-20364000	Weak transcription	A549	lung
6	chr12:20359400-20364200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:20359600-20364400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:20359600-20364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:20359800-20363400	Weak transcription	Hela-S3	cervix
10	chr12:20359800-20364000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:20362000-20364400	Weak transcription	Fetal Brain Male	brain
12	chr12:20362200-20367200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:20362400-20364000	Weak transcription	Fetal Stomach	stomach
14	chr12:20362600-20364000	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:20362600-20364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:20362600-20364600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:20362600-20365400	Weak transcription	Right Atrium	heart
18	chr12:20362600-20365600	Weak transcription	Left Ventricle	heart
19	chr12:20362800-20364200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:20362800-20364600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:20362800-20364800	Weak transcription	Right Ventricle	heart
22	chr12:20362800-20365000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:20363000-20364000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:20363200-20363600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:20363200-20365200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:20363200-20365600	Enhancers	Primary B cells from cord blood	blood
27	chr12:20363200-20366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:20363400-20365800	Enhancers	Primary hematopoietic stem cells	blood
29	chr12:20363400-20365800	Enhancers	Hela-S3	cervix

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