Variant report

Variant	rs547354197
Chromosome Location	chr5:75699120-75699121
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	RAD21	chr5:75698854-75699315	A549	lung:	n/a	chr5:75699113-75699127 chr5:75698902-75698916 chr5:75698933-75698947
2	SPI1	chr5:75698662-75699400	GM12878	blood:	n/a	chr5:75698968-75698981 chr5:75698974-75698987
3	POLR2A	chr5:75698737-75699967	GM12878	blood:	n/a	n/a
4	CTCF	chr5:75698859-75699226	GM19240	blood:	n/a	n/a
5	POLR2A	chr5:75698488-75701192	GM12878	blood:	n/a	n/a
6	ATF2	chr5:75698195-75699207	GM12878	blood:	n/a	n/a
7	BCLAF1	chr5:75698503-75699265	GM12878	blood:	n/a	chr5:75699121-75699134 chr5:75698791-75698800
8	CTCF	chr5:75698896-75699163	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr5:75698426-75699158	H1-hESC	embryonic stem cell:	n/a	chr5:75698525-75698535 chr5:75699034-75699041 chr5:75698561-75698570
10	TEAD4	chr5:75698959-75699279	A549	lung:	n/a	n/a
11	HDAC2	chr5:75698832-75699169	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:75697542-75700781	GM12892	blood:	n/a	n/a
13	CTCF	chr5:75698068-75700127	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr5:75698980-75699130	GM12870	blood:	n/a	n/a
15	CTCF	chr5:75698980-75699130	Caco-2	colon:	n/a	n/a
16	JUND	chr5:75698260-75699302	K562	blood:	n/a	chr5:75698418-75698427
17	BACH1	chr5:75698288-75700186	H1-hESC	embryonic stem cell:	n/a	n/a
18	RELA	chr5:75697664-75699235	GM10847	blood:	n/a	n/a
19	BHLHE40	chr5:75698232-75699237	GM12878	blood:	n/a	chr5:75698929-75698945 chr5:75698937-75698953
20	RAD21	chr5:75698717-75699310	HCT-116	colon:	n/a	chr5:75699113-75699127 chr5:75698902-75698916 chr5:75698933-75698947
21	TAF1	chr5:75698906-75699297	PFSK-1	brain:	n/a	n/a
22	GATA3	chr5:75698824-75699235	T-47D	breast:	n/a	n/a
23	MYC	chr5:75698151-75699344	K562	blood:	n/a	chr5:75698525-75698535 chr5:75699034-75699041 chr5:75698561-75698570
24	MAX	chr5:75698762-75699309	H1-hESC	embryonic stem cell:	n/a	chr5:75699034-75699041
25	FOXA1	chr5:75698810-75699297	HepG2	liver:	n/a	n/a
26	CTCF	chr5:75698837-75699239	IMR90	lung:	n/a	n/a
27	CTCF	chr5:75698980-75699130	RPTEC	kidney:	n/a	n/a
28	SIN3A	chr5:75698046-75700359	H1-hESC	embryonic stem cell:	n/a	chr5:75698786-75698800 chr5:75699450-75699463 chr5:75698919-75698932 chr5:75700124-75700137 chr5:75700189-75700198
29	USF1	chr5:75698974-75699142	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr5:75698980-75699130	AG09319	gingival:	n/a	n/a
31	TBP	chr5:75698025-75699931	K562	blood:	n/a	n/a
32	STAT5A	chr5:75698237-75699206	GM12878	blood:	n/a	chr5:75699103-75699114
33	POLR2A	chr5:75698827-75699309	HepG2	liver:	n/a	n/a
34	CTCF	chr5:75698980-75699130	GM12873	blood:	n/a	n/a
35	CTCF	chr5:75698891-75699196	Gliobla	brain:	n/a	n/a
36	TEAD4	chr5:75697985-75699239	K562	blood:	n/a	chr5:75698271-75698280
37	CHD2	chr5:75698801-75699170	HepG2	liver:	n/a	n/a
38	ZNF143	chr5:75698239-75699276	K562	blood:	n/a	n/a
39	CREB1	chr5:75698042-75699312	K562	blood:	n/a	n/a
40	POLR2A	chr5:75698213-75699301	HL-60	blood:	n/a	n/a
41	TAF1	chr5:75698981-75699228	GM12891	blood:	n/a	n/a
42	NFIC	chr5:75698143-75699201	GM12878	blood:	n/a	n/a
43	POU2F2	chr5:75698787-75699308	GM12891	blood:	n/a	n/a
44	CTCFL	chr5:75698950-75699165	K562	blood:	n/a	n/a
45	MXI1	chr5:75698216-75702271	GM12878	blood:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
46	POLR2A	chr5:75698840-75699443	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr5:75698980-75699130	K562	blood:	n/a	n/a
48	CREB1	chr5:75698284-75699336	GM12878	blood:	n/a	n/a
49	CTCF	chr5:75699020-75699170	GM12873	blood:	n/a	n/a
50	BHLHE40	chr5:75697972-75699258	K562	blood:	n/a	chr5:75698929-75698945 chr5:75698937-75698953

Variant related genes	Relation type
IQGAP2	TF binding region

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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3349228	chr5:75698646-75701144	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 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	chr5:75697600-75699400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:75697600-75699600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
3	chr5:75697600-75699800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr5:75697600-75701200	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:75697800-75699600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:75697800-75699600	Active TSS	Fetal Intestine Small	intestine
7	chr5:75697800-75699600	Bivalent/Poised TSS	NHEK	skin
8	chr5:75697800-75700000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:75697800-75700000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:75697800-75700400	Active TSS	Fetal Lung	lung
11	chr5:75697800-75700600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:75697800-75701200	Active TSS	Right Atrium	heart
13	chr5:75697800-75702000	Active TSS	Fetal Kidney	kidney
14	chr5:75698000-75699200	Active TSS	Fetal Heart	heart
15	chr5:75698000-75699400	Active TSS	Brain Anterior Caudate	brain
16	chr5:75698000-75699400	Active TSS	A549	lung
17	chr5:75698000-75699600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:75698000-75700000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:75698000-75700000	Active TSS	Esophagus	oesophagus
20	chr5:75698000-75700200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:75698000-75700200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:75698000-75700200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:75698000-75700200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:75698000-75700200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr5:75698000-75700200	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr5:75698000-75700200	Active TSS	Duodenum Mucosa	Duodenum
27	chr5:75698000-75700200	Active TSS	Ovary	ovary
28	chr5:75698000-75700200	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:75698000-75700400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr5:75698000-75700400	Active TSS	Pancreas	Pancrea
31	chr5:75698000-75700600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:75698200-75699400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr5:75698200-75699400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:75698200-75699400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
35	chr5:75698200-75699400	Active TSS	Fetal Stomach	stomach
36	chr5:75698200-75699400	Active TSS	Lung	lung
37	chr5:75698200-75699400	Bivalent/Poised TSS	Osteobl	bone
38	chr5:75698200-75699600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:75698200-75699600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:75698200-75699600	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr5:75698200-75699800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:75698200-75699800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:75698200-75699800	Active TSS	Aorta	Aorta
44	chr5:75698200-75700000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr5:75698200-75700000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:75698200-75700000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:75698200-75700000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:75698200-75700000	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr5:75698200-75700000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:75698200-75700000	Active TSS	GM12878-XiMat	blood

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