Variant report

Variant	rs147432632
Chromosome Location	chr3:145940725-145940726
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:145940285-145941051	A549	lung:	n/a	n/a
2	CTCF	chr3:145940580-145940762	K562	blood:	n/a	n/a
3	CTCF	chr3:145940569-145940804	MCF-7	breast:	n/a	n/a
4	BCL3	chr3:145939979-145940826	A549	lung:	n/a	n/a
5	CTCF	chr3:145940620-145940770	RPTEC	kidney:	n/a	n/a
6	MYBL2	chr3:145939969-145940940	HepG2	liver:	n/a	n/a
7	FOXA1	chr3:145939821-145940939	HepG2	liver:	n/a	n/a
8	NR2F2	chr3:145940021-145940950	MCF-7	breast:	n/a	n/a
9	CTCF	chr3:145940678-145940775	LNCaP	prostate:	n/a	n/a
10	RAD21	chr3:145940400-145941038	HCT-116	colon:	n/a	n/a
11	RAD21	chr3:145940502-145940944	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr3:145940511-145940797	K562	blood:	n/a	n/a
13	CTCF	chr3:145940641-145940830	K562	blood:	n/a	n/a
14	FOSL2	chr3:145940568-145940988	MCF-7	breast:	n/a	n/a
15	POLR2A	chr3:145940001-145940824	HepG2	liver:	n/a	n/a
16	HNF4A	chr3:145940002-145940811	HepG2	liver:	n/a	chr3:145940264-145940279
17	FOSL2	chr3:145940535-145940897	A549	lung:	n/a	n/a
18	POLR2A	chr3:145940007-145940875	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr3:145940417-145940993	HepG2	liver:	n/a	n/a
20	FOXA2	chr3:145939465-145940841	HepG2	liver:	n/a	n/a
21	ARID3A	chr3:145939594-145940831	HepG2	liver:	n/a	n/a
22	CTCF	chr3:145940566-145940817	MCF-7	breast:	n/a	n/a
23	RAD21	chr3:145940395-145941033	MCF-7	breast:	n/a	n/a
24	SP1	chr3:145939943-145940859	HepG2	liver:	n/a	n/a
25	CTCF	chr3:145940598-145940995	MCF-7	breast:	n/a	n/a
26	FOXA2	chr3:145939934-145940854	A549	lung:	n/a	n/a
27	JUN	chr3:145940136-145940880	HepG2	liver:	n/a	n/a
28	CTCF	chr3:145940641-145940783	Pancreas_OC	pancreas:	n/a	n/a
29	MAFF	chr3:145940099-145940818	HepG2	liver:	n/a	n/a
30	MBD4	chr3:145940052-145940808	HepG2	liver:	n/a	n/a
31	CTCF	chr3:145940640-145940790	SAEC	small airway:	n/a	n/a
32	JUND	chr3:145940043-145941577	HepG2	liver:	n/a	chr3:145941406-145941418 chr3:145941381-145941392 chr3:145941382-145941392 chr3:145941407-145941417 chr3:145941384-145941391 chr3:145941382-145941391 chr3:145941381-145941393 chr3:145941383-145941392 chr3:145941407-145941417 chr3:145941382-145941392
33	TCF12	chr3:145939828-145940981	A549	lung:	n/a	n/a
34	MYC	chr3:145940598-145940731	MCF-7	breast:	n/a	n/a
35	CTCF	chr3:145939765-145941332	A549	lung:	n/a	n/a
36	MAFK	chr3:145940016-145940802	HepG2	liver:	n/a	n/a
37	CTCF	chr3:145940446-145940851	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr3:145940600-145940750	SAEC	small airway:	n/a	n/a
39	USF1	chr3:145940001-145940848	A549	lung:	n/a	n/a
40	NFIC	chr3:145939555-145940880	HepG2	liver:	n/a	n/a
41	REST	chr3:145939895-145940893	A549	lung:	n/a	n/a
42	CTCF	chr3:145940630-145940742	GM19239	blood:	n/a	n/a
43	JUND	chr3:145940552-145940928	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr3:145940555-145940847	MCF-7	breast:	n/a	n/a
45	CTCF	chr3:145940386-145941059	HCT-116	colon:	n/a	n/a
46	CTCF	chr3:145940580-145940730	HUVEC	blood vessel:	n/a	n/a
47	RAD21	chr3:145940622-145940812	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr3:145940543-145940834	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr3:145940631-145940778	NHEK	skin:	n/a	n/a
50	HEY1	chr3:145939889-145940841	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145940299..145941372-chr3:146044662..146045624,8	MCF-7	breast:
2	chr3:145940254..145941134-chr3:146295120..146295978,3	MCF-7	breast:

No data

Variant related genes	Relation type
PLSCR4	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	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv877614	chr3:145903426-146025896	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv877615	chr3:145910430-145988231	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv877616	chr3:145921954-145983688	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3333601	chr3:145940702-146068210	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145924400-145944000	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:145924400-145945200	Weak transcription	HSMMtube	muscle
3	chr3:145925000-145945600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:145925400-145952800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:145925600-145950800	Weak transcription	Fetal Kidney	kidney
6	chr3:145932600-145943800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:145932800-145941000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:145934600-145952200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:145936000-145945200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:145938600-145941200	Active TSS	HepG2	liver
11	chr3:145938600-145941400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:145938800-145940800	Enhancers	Fetal Lung	lung
13	chr3:145939200-145940800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:145939200-145940800	Enhancers	Stomach Smooth Muscle	stomach
15	chr3:145939200-145940800	Enhancers	Hela-S3	cervix
16	chr3:145939800-145940800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:145939800-145941400	Flanking Active TSS	Liver	Liver
18	chr3:145939800-145941400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:145939800-145941400	Flanking Active TSS	A549	lung
20	chr3:145940000-145940800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr3:145940000-145941000	Enhancers	Ovary	ovary
22	chr3:145940000-145941000	Flanking Active TSS	HUVEC	blood vessel
23	chr3:145940000-145941400	Enhancers	NHLF	lung
24	chr3:145940200-145940800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:145940200-145940800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:145940200-145940800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:145940200-145940800	Enhancers	Aorta	Aorta
28	chr3:145940200-145940800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:145940200-145940800	Enhancers	Fetal Stomach	stomach
30	chr3:145940200-145940800	Enhancers	Psoas Muscle	Psoas
31	chr3:145940200-145941200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:145940200-145941200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:145940200-145941400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:145940200-145941400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:145940200-145941400	Enhancers	Stomach Mucosa	stomach
36	chr3:145940200-145941400	Enhancers	NH-A	brain
37	chr3:145940400-145940800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:145940400-145940800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:145940400-145940800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:145940400-145940800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr3:145940400-145940800	Flanking Active TSS	Colonic Mucosa	Colon
42	chr3:145940400-145940800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr3:145940400-145940800	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr3:145940400-145940800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr3:145940400-145940800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:145940400-145940800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:145940400-145940800	Enhancers	Small Intestine	intestine
48	chr3:145940400-145940800	Enhancers	Spleen	Spleen
49	chr3:145940400-145941000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:145940400-145941000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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