Variant report

Variant	rs6879028
Chromosome Location	chr5:14679016-14679017
allele	A/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	NFATC1	chr5:14678561-14679391	GM12878	blood:	n/a	n/a
2	MEF2A	chr5:14678756-14679355	GM12878	blood:	n/a	chr5:14678951-14678972 chr5:14679005-14679020 chr5:14679003-14679024 chr5:14679007-14679018 chr5:14679045-14679066 chr5:14679003-14679024 chr5:14679005-14679019 chr5:14678953-14678967 chr5:14678955-14678966
3	NFIC	chr5:14678445-14679432	GM12878	blood:	n/a	n/a
4	CREB1	chr5:14678450-14679458	GM12878	blood:	n/a	n/a
5	EP300	chr5:14679013-14679261	GM12878	blood:	n/a	n/a
6	CEBPB	chr5:14678952-14679261	K562	blood:	n/a	chr5:14679095-14679106
7	MEF2A	chr5:14678713-14679324	GM12878	blood:	n/a	chr5:14678951-14678972 chr5:14679005-14679020 chr5:14679003-14679024 chr5:14679007-14679018 chr5:14679045-14679066 chr5:14679003-14679024 chr5:14679005-14679019 chr5:14678953-14678967 chr5:14678955-14678966
8	ATF2	chr5:14678629-14679322	GM12878	blood:	n/a	n/a
9	BATF	chr5:14678940-14679401	GM12878	blood:	n/a	n/a
10	EP300	chr5:14678971-14679076	GM12878	blood:	n/a	n/a
11	CEBPB	chr5:14678770-14679387	GM12878	blood:	n/a	chr5:14679095-14679106
12	BHLHE40	chr5:14679010-14679061	GM12878	blood:	n/a	n/a
13	NFATC1	chr5:14678385-14679222	GM12878	blood:	n/a	n/a
14	ATF2	chr5:14678482-14679313	GM12878	blood:	n/a	n/a
15	FOXM1	chr5:14678670-14679358	GM12878	blood:	n/a	n/a
16	RUNX3	chr5:14678336-14679612	GM12878	blood:	n/a	n/a
17	MEF2C	chr5:14678779-14679338	GM12878	blood:	n/a	chr5:14678951-14678972 chr5:14679005-14679020 chr5:14679003-14679024 chr5:14679007-14679018 chr5:14679045-14679066 chr5:14679003-14679024 chr5:14679005-14679019 chr5:14678953-14678967 chr5:14678955-14678966
18	NFIC	chr5:14678769-14679311	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr5:14679003-14679090	GM12878	blood:	n/a	n/a
20	CEBPB	chr5:14679012-14679260	HepG2	liver:	n/a	chr5:14679095-14679106
21	PML	chr5:14678773-14679450	GM12878	blood:	n/a	n/a
22	CREB1	chr5:14678728-14679387	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14663431..14670152-chr5:14672054..14680588,17	K562	blood:

Variant related genes	Relation type
FAM105B	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs153829	1.00[YRI][hapmap]
rs16903633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903653	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870801	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1801565	chr5:14671030-14684471	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 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	chr5:14666400-14681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:14666400-14688200	Weak transcription	Ovary	ovary
3	chr5:14666600-14688200	Weak transcription	Brain Germinal Matrix	brain
4	chr5:14667000-14680000	Weak transcription	Fetal Brain Female	brain
5	chr5:14667000-14681200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:14667000-14690400	Weak transcription	Fetal Brain Male	brain
7	chr5:14672000-14684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:14672200-14690400	Strong transcription	Hela-S3	cervix
9	chr5:14672800-14679200	Weak transcription	HUVEC	blood vessel
10	chr5:14673000-14679200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:14673000-14679200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:14673000-14681400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:14673200-14681400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:14673800-14690000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:14674000-14712800	Strong transcription	Fetal Intestine Large	intestine
16	chr5:14674200-14679200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:14674600-14679200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:14674600-14681400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:14674600-14687200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:14674600-14688400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:14674600-14695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:14675200-14695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:14675600-14682200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:14675800-14679200	Weak transcription	Brain Anterior Caudate	brain
25	chr5:14675800-14679200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:14675800-14680600	Enhancers	Fetal Heart	heart
27	chr5:14675800-14685400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:14676000-14682000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:14676200-14681600	Weak transcription	Brain Substantia Nigra	brain
30	chr5:14676600-14679200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:14676600-14681400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:14676800-14679200	Weak transcription	Esophagus	oesophagus
33	chr5:14676800-14679200	Weak transcription	Gastric	stomach
34	chr5:14676800-14679200	Weak transcription	Pancreas	Pancrea
35	chr5:14676800-14679200	Weak transcription	Thymus	Thymus
36	chr5:14676800-14679400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr5:14676800-14680400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:14676800-14680600	Weak transcription	Colonic Mucosa	Colon
39	chr5:14676800-14681200	Weak transcription	Fetal Lung	lung
40	chr5:14676800-14681400	Weak transcription	Small Intestine	intestine
41	chr5:14676800-14683600	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:14676800-14687800	Weak transcription	Fetal Kidney	kidney
43	chr5:14676800-14690600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:14676800-14705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:14677000-14679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:14677000-14679200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:14677000-14679200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:14677000-14679200	Weak transcription	NHLF	lung
49	chr5:14677000-14680400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:14677000-14680400	Weak transcription	Spleen	Spleen

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