Variant report

Variant	rs2272160
Chromosome Location	chr4:119200594-119200595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119200552..119202977-chr4:119264974..119267166,2	MCF-7	breast:
2	chr13:21475077..21476776-chr4:119200558..119202187,2	MCF-7	breast:
3	chr4:119199845..119203643-chr4:119232853..119237501,6	K562	blood:
4	chr4:119198442..119201160-chr4:120987880..120989467,2	MCF-7	breast:
5	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:
6	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:
7	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
8	chr4:119199772..119200721-chrX:100662278..100663232,2	Hela-S3	cervix:
9	chr4:118005406..118007339-chr4:119199898..119201465,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164109	Chromatin interaction
ENSG00000164099	Chromatin interaction
ENSG00000250938	Chromatin interaction
ENSG00000102393	Chromatin interaction
ENSG00000174599	Chromatin interaction
ENSG00000145388	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001926	0.81[ASN][1000 genomes]
rs10002634	0.93[ASN][1000 genomes]
rs10008013	0.93[ASN][1000 genomes]
rs10014055	0.93[ASN][1000 genomes]
rs10014957	0.93[ASN][1000 genomes]
rs10016206	0.93[ASN][1000 genomes]
rs10016301	0.90[ASN][1000 genomes]
rs10018844	0.93[ASN][1000 genomes]
rs10024837	0.93[ASN][1000 genomes]
rs10025690	0.93[ASN][1000 genomes]
rs10033927	0.93[ASN][1000 genomes]
rs10213280	0.93[ASN][1000 genomes]
rs1028091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1045817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11723877	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11723996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726746	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11726838	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11727684	0.93[ASN][1000 genomes]
rs11727817	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11728941	0.93[ASN][1000 genomes]
rs11730327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11730687	0.93[ASN][1000 genomes]
rs11731179	0.86[ASN][1000 genomes]
rs11734145	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930782	0.93[ASN][1000 genomes]
rs11933280	0.93[ASN][1000 genomes]
rs11934183	0.93[ASN][1000 genomes]
rs11944227	0.93[ASN][1000 genomes]
rs11945329	0.93[ASN][1000 genomes]
rs11945537	0.93[ASN][1000 genomes]
rs11945882	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11947244	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11947630	0.93[ASN][1000 genomes]
rs13114867	0.90[ASN][1000 genomes]
rs13129847	0.90[ASN][1000 genomes]
rs13435006	0.93[ASN][1000 genomes]
rs1403845	0.93[ASN][1000 genomes]
rs1403846	0.93[ASN][1000 genomes]
rs1523744	0.93[ASN][1000 genomes]
rs1523745	0.93[ASN][1000 genomes]
rs1523746	0.93[ASN][1000 genomes]
rs1589718	0.90[ASN][1000 genomes]
rs17515832	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17516430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17516450	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs17516575	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17594054	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17594243	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996725	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030633	0.93[ASN][1000 genomes]
rs2030634	0.93[ASN][1000 genomes]
rs2204269	0.93[ASN][1000 genomes]
rs2271577	0.93[ASN][1000 genomes]
rs2271578	0.93[ASN][1000 genomes]
rs28396217	0.93[ASN][1000 genomes]
rs28508556	0.93[ASN][1000 genomes]
rs28661939	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805195	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3817274	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4546315	0.93[ASN][1000 genomes]
rs56007507	0.93[ASN][1000 genomes]
rs56258393	0.93[ASN][1000 genomes]
rs56305917	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56339949	0.93[ASN][1000 genomes]
rs56390335	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57605165	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58798110	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60858456	0.86[ASN][1000 genomes]
rs61342457	0.93[ASN][1000 genomes]
rs61443542	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62326151	0.93[ASN][1000 genomes]
rs6534088	0.86[ASN][1000 genomes]
rs6822408	0.86[ASN][1000 genomes]
rs6822996	0.93[ASN][1000 genomes]
rs6842372	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6842689	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6853304	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6853879	0.90[ASN][1000 genomes]
rs6855052	0.93[ASN][1000 genomes]
rs6855536	0.84[ASN][1000 genomes]
rs6856076	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71608347	0.90[ASN][1000 genomes]
rs71608349	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72907147	0.86[ASN][1000 genomes]
rs72907175	0.86[ASN][1000 genomes]
rs72909175	0.93[ASN][1000 genomes]
rs72909186	0.93[ASN][1000 genomes]
rs72917104	0.93[ASN][1000 genomes]
rs72917146	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72917175	0.93[ASN][1000 genomes]
rs72917179	0.93[ASN][1000 genomes]
rs7661522	0.90[ASN][1000 genomes]
rs7685455	0.93[ASN][1000 genomes]
rs9992827	0.90[ASN][1000 genomes]
rs9996753	0.93[ASN][1000 genomes]
rs9996762	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119197800-119200800	Active TSS	Duodenum Mucosa	Duodenum
2	chr4:119198600-119201000	Active TSS	Liver	Liver
3	chr4:119198800-119200600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:119198800-119200600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr4:119198800-119200600	Active TSS	NH-A	brain
6	chr4:119199000-119200600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr4:119199000-119200600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:119199000-119200600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:119199000-119200600	Active TSS	Brain Anterior Caudate	brain
10	chr4:119199000-119200600	Active TSS	Brain Hippocampus Middle	brain
11	chr4:119199000-119200600	Active TSS	Fetal Brain Female	brain
12	chr4:119199000-119200600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:119199000-119200600	Active TSS	Hela-S3	cervix
14	chr4:119199000-119200800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr4:119199000-119200800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:119199000-119200800	Active TSS	Colon Smooth Muscle	Colon
17	chr4:119199000-119200800	Active TSS	NHLF	lung
18	chr4:119199000-119201000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:119199000-119201000	Active TSS	Aorta	Aorta
20	chr4:119199000-119201000	Active TSS	Placenta	Placenta
21	chr4:119199000-119201000	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr4:119199000-119201000	Active TSS	Stomach Mucosa	stomach
23	chr4:119199000-119201200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:119199000-119201200	Active TSS	Brain Angular Gyrus	brain
25	chr4:119199000-119201200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr4:119199000-119201200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr4:119199000-119201200	Active TSS	Fetal Kidney	kidney
28	chr4:119199000-119201400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:119199000-119201400	Active TSS	Rectal Smooth Muscle	rectum
30	chr4:119199000-119201600	Active TSS	Colonic Mucosa	Colon
31	chr4:119199000-119201600	Active TSS	Psoas Muscle	Psoas
32	chr4:119199000-119202000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:119199000-119202000	Active TSS	Fetal Stomach	stomach
34	chr4:119199000-119202200	Active TSS	Thymus	Thymus
35	chr4:119199200-119200600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:119199200-119200600	Active TSS	Primary T cells from cord blood	blood
37	chr4:119199200-119200600	Active TSS	HSMM	muscle
38	chr4:119199200-119200800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:119199200-119200800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:119199200-119200800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:119199200-119200800	Active TSS	Brain Cingulate Gyrus	brain
42	chr4:119199200-119200800	Active TSS	Brain Substantia Nigra	brain
43	chr4:119199200-119201000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:119199200-119201000	Active TSS	Fetal Muscle Trunk	muscle
45	chr4:119199200-119201000	Active TSS	Left Ventricle	heart
46	chr4:119199200-119201000	Active TSS	Ovary	ovary
47	chr4:119199200-119201000	Active TSS	Small Intestine	intestine
48	chr4:119199200-119201000	Active TSS	HSMMtube	muscle
49	chr4:119199200-119201200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr4:119199200-119201200	Active TSS	Fetal Lung	lung

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