Variant report

Variant	rs10472284
Chromosome Location	chr5:37180325-37180326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:37180286-37180459	H1-hESC	embryonic stem cell:	n/a	chr5:37180403-37180414
2	CEBPB	chr5:37180266-37180438	HepG2	liver:	n/a	chr5:37180403-37180414
3	CEBPB	chr5:37180264-37180598	K562	blood:	n/a	chr5:37180403-37180414

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37175215..37177693-chr5:37180001..37182944,2	K562	blood:

Variant related genes	Relation type
C5orf42	TF binding region
ENSG00000197603	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10040554	0.82[YRI][hapmap]
rs10052646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056774	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058720	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058937	1.00[EUR][1000 genomes]
rs10059431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10061109	1.00[EUR][1000 genomes]
rs10061655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10062236	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10065288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067668	1.00[EUR][1000 genomes]
rs10071931	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10073595	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078655	1.00[EUR][1000 genomes]
rs10079646	0.83[YRI][hapmap]
rs10472285	1.00[EUR][1000 genomes]
rs10473039	0.82[YRI][hapmap]
rs13356183	0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13358096	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360590	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657502	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs296962	0.85[YRI][hapmap]
rs301901	0.85[YRI][hapmap]
rs7707421	1.00[EUR][1000 genomes]
rs9292648	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
2	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
3	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:37138400-37196800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:37143400-37189600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:37147200-37200600	Strong transcription	HSMM	muscle
7	chr5:37148000-37182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:37148600-37189400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:37151600-37197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:37159600-37197400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:37161000-37207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:37161200-37183800	Strong transcription	Dnd41	blood
13	chr5:37161200-37197400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:37162400-37188600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:37162600-37197400	Strong transcription	Adipose Nuclei	Adipose
16	chr5:37166400-37198400	Weak transcription	Stomach Mucosa	stomach
17	chr5:37166400-37213600	Weak transcription	HepG2	liver
18	chr5:37166600-37197400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:37167000-37194800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:37167200-37181200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:37167200-37195000	Strong transcription	Fetal Intestine Large	intestine
22	chr5:37169600-37197200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
24	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:37171200-37191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:37171400-37209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:37171600-37197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:37171600-37208200	Weak transcription	Gastric	stomach
29	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
30	chr5:37172200-37196600	Weak transcription	Pancreas	Pancrea
31	chr5:37172200-37197200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:37172200-37207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:37172400-37192600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:37173400-37197400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr5:37173400-37197400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:37173400-37209200	Weak transcription	NHEK	skin
38	chr5:37173600-37185800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:37174000-37182800	Weak transcription	HMEC	breast
40	chr5:37174000-37197200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:37174200-37182800	Weak transcription	A549	lung
43	chr5:37174200-37183600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:37174200-37184400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:37174200-37197400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr5:37174400-37182400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:37175400-37184200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:37175400-37184800	Weak transcription	Thymus	Thymus
49	chr5:37175400-37194400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:37175400-37194600	Weak transcription	Duodenum Mucosa	Duodenum

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