Variant report

Variant	rs10067153
Chromosome Location	chr5:42876030-42876031
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42853973..42857038-chr5:42873699..42877054,3	K562	blood:
2	chr5:42871730..42873375-chr5:42874311..42877246,2	K562	blood:
3	chr5:42874819..42877698-chr5:42883856..42886524,3	K562	blood:
4	chr5:41903042..41905905-chr5:42874785..42876524,2	K562	blood:
5	chr5:42874757..42877271-chr5:42884816..42887879,3	K562	blood:

Variant related genes	Relation type
ENSG00000250722	Chromatin interaction
ENSG00000205765	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10036147	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs10038990	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041108	1.00[CHB][hapmap]
rs10045847	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10045863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056315	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061198	0.87[EUR][1000 genomes]
rs10070118	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070249	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072083	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072749	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105983	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951328	1.00[ASN][1000 genomes]
rs13168440	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13170322	1.00[CHB][hapmap]
rs13171505	1.00[ASN][1000 genomes]
rs13172646	1.00[ASN][1000 genomes]
rs13174226	1.00[CHB][hapmap]
rs13176080	1.00[CHB][hapmap]
rs13187223	1.00[ASN][1000 genomes]
rs13189374	1.00[ASN][1000 genomes]
rs2081164	1.00[ASN][1000 genomes]
rs2085100	1.00[CHB][hapmap]
rs28705009	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28919899	1.00[ASN][1000 genomes]
rs28919913	1.00[ASN][1000 genomes]
rs34086275	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34829612	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34831882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981544	0.87[EUR][1000 genomes]
rs35904649	1.00[ASN][1000 genomes]
rs3877899	1.00[ASN][1000 genomes]
rs4283796	1.00[ASN][1000 genomes]
rs4482913	0.87[EUR][1000 genomes]
rs5025611	1.00[CHB][hapmap]
rs632730	1.00[CHB][hapmap]
rs6413428	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6414898	1.00[CHB][hapmap]
rs6451634	1.00[CHB][hapmap]
rs6451641	1.00[CHB][hapmap]
rs6451643	1.00[CHB][hapmap]
rs6451649	0.87[EUR][1000 genomes]
rs6451650	0.87[EUR][1000 genomes]
rs6451651	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs6451653	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs6451654	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6863953	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867854	0.81[EUR][1000 genomes]
rs6873340	1.00[CHB][hapmap]
rs6881608	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs6895458	0.87[EUR][1000 genomes]
rs6895751	0.87[EUR][1000 genomes]
rs6896899	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627561	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7444761	1.00[CHB][hapmap]
rs7710105	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722920	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9292859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
4	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
6	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	309 gene(s)	inside rSNPs	diseases
10	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
11	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42872600-42882200	Enhancers	Fetal Intestine Large	intestine
2	chr5:42872600-42882400	Enhancers	Fetal Intestine Small	intestine
3	chr5:42873400-42876600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:42874600-42876600	Enhancers	Duodenum Mucosa	Duodenum
5	chr5:42875000-42878600	Enhancers	Small Intestine	intestine
6	chr5:42875200-42877000	Flanking Active TSS	Liver	Liver
7	chr5:42875400-42878800	Flanking Active TSS	HepG2	liver
8	chr5:42875600-42876200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:42875600-42876400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:42875600-42876600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:42875600-42876600	Enhancers	Adipose Nuclei	Adipose
12	chr5:42875600-42876600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:42875600-42876600	Enhancers	K562	blood
14	chr5:42875800-42876200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:42875800-42876200	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:42875800-42876200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:42875800-42876200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr5:42875800-42876200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:42875800-42876200	Enhancers	Placenta	Placenta
20	chr5:42875800-42876200	Enhancers	Lung	lung
21	chr5:42875800-42876200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:42875800-42876200	Enhancers	Spleen	Spleen
23	chr5:42875800-42876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr5:42875800-42876400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:42875800-42876600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:42875800-42876600	Enhancers	Ovary	ovary
27	chr5:42875800-42877000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:42875800-42877000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:42875800-42877000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:42875800-42877000	Enhancers	HUVEC	blood vessel
31	chr5:42875800-42877400	Enhancers	Primary hematopoietic stem cells	blood
32	chr5:42876000-42876200	Enhancers	Primary T cells from cord blood	blood
33	chr5:42876000-42876200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:42876000-42876200	Enhancers	Brain Angular Gyrus	brain
35	chr5:42876000-42876200	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr5:42876000-42876200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr5:42876000-42876200	Enhancers	Left Ventricle	heart
38	chr5:42876000-42876200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr5:42876000-42876400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:42876000-42876400	Weak transcription	Colonic Mucosa	Colon
41	chr5:42876000-42876600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:42876000-42876600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr5:42876000-42876600	Enhancers	Fetal Lung	lung
44	chr5:42876000-42876800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:42876000-42876800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:42876000-42879600	Enhancers	Fetal Stomach	stomach

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