Variant report

Variant	rs17475681
Chromosome Location	chr4:148700028-148700029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr4:148699971-148700534	GM12878	blood:	n/a	n/a
2	NFATC1	chr4:148699897-148700513	GM12878	blood:	n/a	n/a
3	BCL3	chr4:148699659-148700545	GM12878	blood:	n/a	n/a
4	NFIC	chr4:148699893-148702117	GM12878	blood:	n/a	n/a
5	REST	chr4:148699939-148700249	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr4:148700016-148700257	GM12878	blood:	n/a	n/a
7	MTA3	chr4:148699857-148701053	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:148699774-148700541	GM12878	blood:	n/a	n/a
9	FOXM1	chr4:148699798-148702028	GM12878	blood:	n/a	n/a
10	REST	chr4:148699980-148700202	K562	blood:	n/a	n/a
11	REST	chr4:148699998-148700306	GM12878	blood:	n/a	n/a
12	SMC3	chr4:148699944-148700520	GM12878	blood:	n/a	n/a
13	BCL3	chr4:148699924-148700513	GM12878	blood:	n/a	n/a
14	BHLHE40	chr4:148699940-148702041	GM12878	blood:	n/a	n/a
15	TCF12	chr4:148699971-148700528	GM12878	blood:	n/a	n/a
16	FOXM1	chr4:148699923-148700525	GM12878	blood:	n/a	n/a
17	PAX5	chr4:148700020-148700926	GM12878	blood:	n/a	chr4:148700732-148700741
18	RELA	chr4:148699988-148702147	GM19099	blood:	n/a	n/a
19	REST	chr4:148699843-148700269	HL-60	blood:	n/a	n/a
20	ATF2	chr4:148699787-148702056	GM12878	blood:	n/a	n/a
21	NFYB	chr4:148699985-148700383	GM12878	blood:	n/a	n/a
22	STAT5A	chr4:148699928-148700853	GM12878	blood:	n/a	chr4:148700117-148700128
23	CREB1	chr4:148699901-148700559	GM12878	blood:	n/a	n/a
24	REST	chr4:148699950-148700324	GM12878	blood:	n/a	n/a
25	TCF12	chr4:148699993-148700436	GM12878	blood:	n/a	n/a
26	CUX1	chr4:148699905-148701649	GM12878	blood:	n/a	n/a
27	RUNX3	chr4:148699893-148700986	GM12878	blood:	n/a	n/a
28	IKZF1	chr4:148699946-148702083	GM12878	blood:	n/a	chr4:148700686-148700694 chr4:148700139-148700151
29	ATF2	chr4:148699821-148702027	GM12878	blood:	n/a	n/a
30	RUNX3	chr4:148699909-148700599	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:148699897-148700887	GM12878	blood:	n/a	n/a
32	NFATC1	chr4:148699655-148700512	GM12878	blood:	n/a	n/a
33	REST	chr4:148699845-148700393	GM12878	blood:	n/a	n/a
34	MXI1	chr4:148699929-148700513	GM12878	blood:	n/a	n/a
35	SP1	chr4:148699974-148700434	GM12878	blood:	n/a	n/a
36	POU2F2	chr4:148699933-148700833	GM12878	blood:	n/a	chr4:148700275-148700288
37	IRF4	chr4:148699999-148700871	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr4:148699896-148702016	GM12878	blood:	n/a	n/a
39	RCOR1	chr4:148699895-148702015	GM12878	blood:	n/a	n/a
40	RELA	chr4:148699785-148702083	GM19193	blood:	n/a	n/a
41	EP300	chr4:148699935-148700439	GM12878	blood:	n/a	n/a
42	PML	chr4:148699939-148700918	GM12878	blood:	n/a	n/a
43	PAX5	chr4:148700014-148700533	GM12878	blood:	n/a	n/a
44	NFIC	chr4:148699762-148700545	GM12878	blood:	n/a	n/a
45	REST	chr4:148699894-148700263	ECC-1	luminal epithelium:	n/a	n/a
46	MAZ	chr4:148699972-148700403	GM12878	blood:	n/a	n/a
47	BCLAF1	chr4:148699839-148700529	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:148700006-148700600	GM12892	blood:	n/a	n/a
49	BCLAF1	chr4:148699975-148700565	GM12878	blood:	n/a	n/a
50	MEF2A	chr4:148699945-148700454	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:148698864..148701739-chr4:148701803..148703521,2	MCF-7	breast:
2	chr4:148692638..148695831-chr4:148697652..148700222,4	MCF-7	breast:
3	chr4:148692827..148694690-chr4:148699168..148701568,2	K562	blood:
4	chr4:148697444..148700218-chr4:148710161..148711929,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4799	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13144204	1.00[CHB][hapmap]
rs7675343	0.85[LWK][hapmap]
rs924780	0.85[LWK][hapmap]

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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:148693200-148700600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:148695200-148701400	Weak transcription	Small Intestine	intestine
6	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
8	chr4:148696400-148700800	Enhancers	Right Ventricle	heart
9	chr4:148697000-148701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:148697600-148700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:148697600-148702000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:148697800-148700400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:148697800-148701000	Enhancers	Ovary	ovary
15	chr4:148698000-148700200	Weak transcription	Esophagus	oesophagus
16	chr4:148698000-148701400	Weak transcription	Lung	lung
17	chr4:148698200-148700200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:148698200-148701400	Weak transcription	Gastric	stomach
19	chr4:148698200-148701400	Weak transcription	Spleen	Spleen
20	chr4:148698200-148701800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
22	chr4:148698600-148702200	Enhancers	Right Atrium	heart
23	chr4:148698800-148700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:148698800-148701400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:148698800-148703400	Weak transcription	Stomach Mucosa	stomach
26	chr4:148698800-148703600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:148699000-148703000	Weak transcription	HSMM	muscle
29	chr4:148699000-148703200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:148699000-148703200	Weak transcription	NHDF-Ad	bronchial
31	chr4:148699200-148700400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:148699200-148701400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:148699200-148702600	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:148699200-148703200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:148699200-148703200	Weak transcription	NH-A	brain
36	chr4:148699200-148703200	Weak transcription	Osteobl	bone
37	chr4:148699200-148703400	Weak transcription	Fetal Intestine Small	intestine
38	chr4:148699400-148700200	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:148699400-148700200	Weak transcription	Psoas Muscle	Psoas
40	chr4:148699400-148700600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:148699400-148700800	Enhancers	Adipose Nuclei	Adipose
42	chr4:148699400-148701400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:148699400-148703200	Weak transcription	Hela-S3	cervix
44	chr4:148699400-148703200	Weak transcription	HSMMtube	muscle
45	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:148699600-148700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:148699600-148700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:148699600-148700600	Weak transcription	A549	lung
49	chr4:148699600-148700600	Weak transcription	NHEK	skin
50	chr4:148699600-148701200	Weak transcription	Duodenum Mucosa	Duodenum

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