Variant report

Variant	rs186415310
Chromosome Location	chr4:79696200-79696201
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	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:79695584-79697705	K562	blood:	n/a	n/a
3	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
4	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
5	TBP	chr4:79696121-79697135	Hela-S3	cervix:	n/a	n/a
6	RELA	chr4:79695491-79697309	GM19099	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
7	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
8	POLR2A	chr4:79696144-79698368	GM15510	blood:	n/a	n/a
9	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:79696150-79696285	HepG2	liver:	n/a	n/a
11	RAD21	chr4:79696148-79696903	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:79696066-79697822	K562	blood:	n/a	n/a
13	UBTF	chr4:79696176-79698607	K562	blood:	n/a	n/a
14	POLR2A	chr4:79696170-79698447	GM18526	blood:	n/a	n/a
15	CHD1	chr4:79696188-79697060	H1-hESC	embryonic stem cell:	n/a	n/a
16	HCFC1	chr4:79696157-79697615	Hela-S3	cervix:	n/a	n/a
17	MAFK	chr4:79695652-79696315	K562	blood:	n/a	n/a
18	POLR2A	chr4:79695814-79698408	GM18505	blood:	n/a	n/a
19	FOXA1	chr4:79696077-79696443	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:79696016-79697741	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:79696163-79696225	MCF-7	breast:	n/a	n/a
22	RELA	chr4:79695441-79696239	GM12878	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
23	POLR2A	chr4:79696076-79698466	Hela-S3	cervix:	n/a	n/a
24	ZNF384	chr4:79696137-79697712	K562	blood:	n/a	n/a
25	POLR2A	chr4:79695518-79698666	GM12878	blood:	n/a	n/a
26	MXI1	chr4:79696132-79697696	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:79696114-79698413	K562	blood:	n/a	n/a
28	POLR2A	chr4:79695634-79698859	K562	blood:	n/a	n/a
29	RELA	chr4:79695471-79697408	GM18951	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
30	CTCF	chr4:79696160-79696310	NHDF-neo	bronchial:	n/a	n/a
31	PML	chr4:79696171-79697784	GM12878	blood:	n/a	n/a
32	ZNF384	chr4:79696143-79696589	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:79696077-79697168	GM12878	blood:	n/a	n/a
34	NR2F2	chr4:79695994-79697235	K562	blood:	n/a	n/a
35	POLR2A	chr4:79696127-79697752	HepG2	liver:	n/a	n/a
36	SMC3	chr4:79696145-79697698	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr4:79696164-79698401	NB4	blood:	n/a	n/a
38	POLR2A	chr4:79696167-79698492	GM19193	blood:	n/a	n/a
39	POLR2A	chr4:79696078-79697773	HEK293	kidney:	n/a	n/a
40	POLR2A	chr4:79695860-79697744	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:79695637-79698610	K562	blood:	n/a	n/a
42	FOXA1	chr4:79696111-79696389	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:79696115-79696624	K562	blood:	n/a	n/a
44	RELA	chr4:79695295-79697697	GM12891	blood:	n/a	chr4:79695717-79695726 chr4:79695717-79695726
45	POLR2A	chr4:79696060-79698519	IMR90	lung:	n/a	n/a
46	MTA3	chr4:79695373-79697519	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:79695325-79698590	Raji	blood:	n/a	n/a
48	GTF2F1	chr4:79696083-79697147	Hela-S3	cervix:	n/a	n/a
49	HEY1	chr4:79696063-79697731	K562	blood:	n/a	chr4:79697321-79697336 chr4:79697144-79697159 chr4:79697632-79697647 chr4:79697502-79697517 chr4:79697417-79697432
50	CEBPB	chr4:79696171-79696471	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79676661..79679162-chr4:79694637..79696425,2	K562	blood:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
4	chr4:79531023..79534724-chr4:79692809..79696400,3	K562	blood:
5	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
6	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
7	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
8	chr4:79565693..79569294-chr4:79696000..79698136,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR3-1	chr4:79694808-79697127	ENSG00000260278.1

Variant related genes	Relation type
BMP2K	TF binding region
ENSG00000138772	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000251019	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79687600-79696200	Weak transcription	Osteobl	bone
2	chr4:79689800-79696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79690000-79696200	Weak transcription	HMEC	breast
4	chr4:79691000-79696200	Weak transcription	Primary T cells from cord blood	blood
5	chr4:79691000-79696200	Weak transcription	Fetal Thymus	thymus
6	chr4:79691000-79696200	Weak transcription	HSMM	muscle
7	chr4:79691600-79696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:79695400-79696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:79695400-79696200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:79695400-79696200	Enhancers	HSMMtube	muscle
11	chr4:79695400-79696400	Flanking Active TSS	GM12878-XiMat	blood
12	chr4:79695600-79696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:79695600-79696200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:79695600-79696200	Weak transcription	Aorta	Aorta
15	chr4:79695600-79696200	Enhancers	Colon Smooth Muscle	Colon
16	chr4:79695600-79696200	Enhancers	Fetal Heart	heart
17	chr4:79695600-79696200	Enhancers	Fetal Intestine Large	intestine
18	chr4:79695600-79696200	Enhancers	Fetal Intestine Small	intestine
19	chr4:79695600-79696200	Enhancers	Fetal Kidney	kidney
20	chr4:79695600-79696200	Enhancers	Fetal Lung	lung
21	chr4:79695600-79696200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:79695600-79696200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr4:79695600-79696200	Enhancers	Dnd41	blood
24	chr4:79695600-79696400	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:79695800-79696200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:79695800-79696200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:79695800-79696200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:79695800-79696200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:79695800-79696200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:79695800-79696200	Enhancers	Liver	Liver
31	chr4:79695800-79696200	Enhancers	Brain Substantia Nigra	brain
32	chr4:79695800-79696200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:79695800-79696200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:79695800-79696200	Weak transcription	Fetal Stomach	stomach
35	chr4:79695800-79696200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:79695800-79696200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:79695800-79696200	Enhancers	A549	lung
38	chr4:79695800-79698200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:79696000-79696200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:79696000-79696200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:79696000-79696200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:79696000-79696200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:79696000-79696200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:79696000-79696200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:79696000-79696200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:79696000-79696200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:79696000-79696200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:79696000-79696200	Enhancers	Brain Angular Gyrus	brain
50	chr4:79696000-79696200	Enhancers	Brain Cingulate Gyrus	brain

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