Variant report

Variant	rs11904051
Chromosome Location	chr2:145173763-145173764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145171987..145175108-chr2:145176731..145179560,4	K562	blood:
2	chr2:145171639..145174314-chr2:145179683..145182397,2	K562	blood:
3	chr2:145160858..145164553-chr2:145171154..145174301,3	MCF-7	breast:
4	chr2:145171987..145174029-chr2:145177149..145179560,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10928212	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680290	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11683355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823683	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35728039	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755090	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755091	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770305	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821064	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55755433	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv875261	chr2:145093066-145184666	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
15	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
16	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145145800-145176000	Strong transcription	Primary hematopoietic stem cells	blood
3	chr2:145157200-145184200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
5	chr2:145157800-145206200	Weak transcription	Lung	lung
6	chr2:145158200-145176000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:145158200-145187200	Weak transcription	Aorta	Aorta
8	chr2:145158400-145184400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:145159000-145193800	Weak transcription	Dnd41	blood
10	chr2:145160000-145184000	Weak transcription	HUVEC	blood vessel
11	chr2:145160200-145182400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:145161600-145183800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:145161800-145187200	Weak transcription	Left Ventricle	heart
14	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:145162600-145175000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:145162600-145176800	Weak transcription	Fetal Heart	heart
17	chr2:145162600-145178200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:145162600-145184200	Weak transcription	NH-A	brain
19	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
20	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:145162800-145178000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:145164400-145184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:145164400-145184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:145167000-145182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:145167000-145182400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:145169200-145174000	Strong transcription	Fetal Muscle Leg	muscle
27	chr2:145169400-145177800	Weak transcription	Fetal Stomach	stomach
28	chr2:145169800-145177800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:145170200-145174400	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:145170400-145182200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:145170400-145182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:145170600-145179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:145171800-145175400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:145171800-145178200	Weak transcription	Liver	Liver
35	chr2:145171800-145180400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:145172000-145175200	Genic enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:145172000-145182200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:145172000-145185000	Weak transcription	Small Intestine	intestine
39	chr2:145172200-145174400	Weak transcription	Brain Germinal Matrix	brain
40	chr2:145172200-145177400	Weak transcription	Ovary	ovary
41	chr2:145172200-145177800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:145172200-145178400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:145172200-145178400	Weak transcription	Fetal Brain Female	brain
44	chr2:145172200-145179600	Weak transcription	Brain Anterior Caudate	brain
45	chr2:145172200-145181600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:145172200-145184800	Weak transcription	Right Ventricle	heart
47	chr2:145172200-145187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:145172200-145187200	Weak transcription	Psoas Muscle	Psoas
49	chr2:145172200-145187400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:145172400-145177600	Weak transcription	HSMMtube	muscle

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