Variant report

Variant	rs576751478
Chromosome Location	chr4:7944169-7944170
allele	A/C
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	NR2F2	chr4:7943790-7944432	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr4:7943973-7944261	Hela-S3	cervix:	n/a	n/a
3	HNF4A	chr4:7943932-7944258	HepG2	liver:	n/a	chr4:7944012-7944020
4	CEBPB	chr4:7943904-7944253	HepG2	liver:	n/a	chr4:7944074-7944085
5	RAD21	chr4:7943884-7944225	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr4:7943878-7944274	Hela-S3	cervix:	n/a	chr4:7944074-7944085
7	NR2F2	chr4:7943782-7944346	HepG2	liver:	n/a	n/a
8	EP300	chr4:7943875-7944239	HepG2	liver:	n/a	chr4:7943890-7943903
9	USF2	chr4:7944026-7944208	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr4:7943915-7944227	Hela-S3	cervix:	n/a	n/a
11	TFAP2A	chr4:7943448-7944294	Hela-S3	cervix:	n/a	chr4:7943615-7943627 chr4:7943615-7943627 chr4:7943615-7943627
12	SMC3	chr4:7944079-7944246	HepG2	liver:	n/a	n/a
13	FOSL2	chr4:7943851-7944267	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:7943913-7944265	HepG2	liver:	n/a	chr4:7944074-7944085
15	NR2F2	chr4:7943845-7944287	MCF-7	breast:	n/a	n/a
16	BHLHE40	chr4:7944018-7944172	HepG2	liver:	n/a	n/a
17	GTF2F1	chr4:7943945-7944185	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr4:7943881-7944204	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr4:7943978-7944203	HepG2	liver:	n/a	n/a
20	RFX5	chr4:7943973-7944234	HepG2	liver:	n/a	n/a
21	RXRA	chr4:7943896-7944260	HepG2	liver:	n/a	n/a
22	SMC3	chr4:7943846-7944293	Hela-S3	cervix:	n/a	n/a
23	TFAP2C	chr4:7943160-7944319	Hela-S3	cervix:	n/a	chr4:7943614-7943629
24	MAZ	chr4:7943927-7944230	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7943913..7945893-chr4:7981237..7983380,2	MCF-7	breast:
2	chr4:7900242..7903106-chr4:7943268..7945113,2	MCF-7	breast:
3	chr4:7943385..7945490-chr4:7973996..7976275,2	MCF-7	breast:

Variant related genes	Relation type
AFAP1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv593621	chr4:7943106-7969594	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7944400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
3	chr4:7942000-7944200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7942000-7944200	Enhancers	Fetal Intestine Large	intestine
5	chr4:7942000-7944200	Enhancers	NHDF-Ad	bronchial
6	chr4:7942000-7944400	Enhancers	Fetal Intestine Small	intestine
7	chr4:7942000-7944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:7942000-7945200	Enhancers	A549	lung
9	chr4:7942000-7945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:7942000-7945400	Enhancers	Placenta	Placenta
11	chr4:7942000-7945400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:7942000-7946200	Weak transcription	Liver	Liver
13	chr4:7942000-7946400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:7942000-7946400	Weak transcription	Fetal Stomach	stomach
15	chr4:7942000-7950400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:7942200-7944800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:7942200-7947400	Weak transcription	Fetal Brain Male	brain
20	chr4:7942200-7950600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:7942600-7944200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:7942600-7944200	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:7942600-7944200	Enhancers	NH-A	brain
24	chr4:7942600-7944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:7942600-7945200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:7942600-7947800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:7942800-7948000	Weak transcription	Fetal Kidney	kidney
28	chr4:7943000-7944200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:7943200-7947400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:7943200-7947800	Weak transcription	Ovary	ovary
31	chr4:7943400-7946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:7943600-7944200	Flanking Active TSS	Hela-S3	cervix
33	chr4:7943600-7946200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:7943600-7950600	Weak transcription	Fetal Heart	heart
35	chr4:7943800-7944200	Flanking Active TSS	HepG2	liver
36	chr4:7943800-7947400	Weak transcription	Pancreas	Pancrea
37	chr4:7944000-7944200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:7944000-7944200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:7944000-7944200	Enhancers	Sigmoid Colon	Sigmoid Colon

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