Variant report

Variant	rs16836054
Chromosome Location	chr1:154462195-154462196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154457376..154460470-chr1:154460552..154464074,4	K562	blood:
2	chr1:154457376..154460470-chr1:154460552..154464074,3	K562	blood:

Variant related genes	Relation type
ENSG00000169291	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10159236	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10752642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10752643	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908844	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908846	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265618	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11265627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265629	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11265634	0.90[EUR][1000 genomes]
rs11804305	0.86[EUR][1000 genomes]
rs12118074	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124333	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129484	0.90[ASN][1000 genomes]
rs14021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302545	0.96[EUR][1000 genomes]
rs4131514	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4269769	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307559	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4308966	0.88[EUR][1000 genomes]
rs4329505	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4345796	0.86[EUR][1000 genomes]
rs4474240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4575077	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585969	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845374	1.00[CEU][hapmap]
rs4845626	1.00[CEU][hapmap]
rs4845634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845636	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845640	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845641	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845643	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56047170	0.90[EUR][1000 genomes]
rs56233546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61811362	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61812599	0.85[EUR][1000 genomes]
rs61812626	0.86[EUR][1000 genomes]
rs61812631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812654	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427720	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6427722	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427724	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6656395	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6662503	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6670375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689710	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696177	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6697103	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6697115	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6701586	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703672	0.90[EUR][1000 genomes]
rs72698167	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526247	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7539745	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7543174	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7550664	0.95[EUR][1000 genomes]
rs7553602	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9427076	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9427082	0.96[EUR][1000 genomes]
rs9427415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154427800-154464800	Weak transcription	Ovary	ovary
2	chr1:154438400-154463400	Weak transcription	Esophagus	oesophagus
3	chr1:154441600-154465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:154443000-154464400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154450000-154462400	Weak transcription	Colonic Mucosa	Colon
6	chr1:154451600-154465600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:154458600-154462400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:154458600-154463000	Weak transcription	Psoas Muscle	Psoas
9	chr1:154458600-154469000	Weak transcription	Small Intestine	intestine
10	chr1:154458800-154462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:154459200-154463000	Weak transcription	Left Ventricle	heart
12	chr1:154459200-154463000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:154459200-154463600	Weak transcription	Right Ventricle	heart
14	chr1:154459200-154464800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:154459400-154464200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:154459400-154465600	Weak transcription	Liver	Liver
17	chr1:154459600-154462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:154459800-154462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:154459800-154464200	Weak transcription	Placenta	Placenta
20	chr1:154460000-154464200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:154460200-154462600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:154461400-154462400	Genic enhancers	HUVEC	blood vessel
23	chr1:154461400-154463000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:154461400-154466400	Enhancers	Spleen	Spleen
25	chr1:154461600-154463000	Enhancers	Fetal Lung	lung
26	chr1:154461600-154464000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:154461600-154464600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:154461800-154462600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:154461800-154462800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:154461800-154463000	Weak transcription	Right Atrium	heart
31	chr1:154461800-154463200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:154461800-154463200	Enhancers	Fetal Stomach	stomach
33	chr1:154461800-154464000	Enhancers	K562	blood
34	chr1:154461800-154464400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr1:154461800-154465600	Enhancers	Adipose Nuclei	Adipose
36	chr1:154461800-154465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:154461800-154467000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:154461800-154473800	Weak transcription	Pancreas	Pancrea
39	chr1:154462000-154462200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:154462000-154462200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:154462000-154462200	Enhancers	Lung	lung
42	chr1:154462000-154462600	Enhancers	Fetal Kidney	kidney
43	chr1:154462000-154463200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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