Variant report

Variant	rs113081858
Chromosome Location	chr2:48010324-48010325
allele	C/T
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	MYC	chr2:48010310-48010497	GM12878	blood:	n/a	n/a
2	TBP	chr2:48009724-48011312	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr2:48010207-48010496	Hela-S3	cervix:	n/a	n/a
4	EGR1	chr2:48009760-48010441	ECC-1	luminal epithelium:	n/a	chr2:48009933-48009946 chr2:48010088-48010102 chr2:48010099-48010109
5	TAF1	chr2:48009863-48010596	H1-neurons	neurons:	n/a	n/a
6	GABPA	chr2:48009709-48010568	MCF-7	breast:	n/a	n/a
7	TEAD4	chr2:48010115-48010464	K562	blood:	n/a	n/a
8	BCL3	chr2:48009938-48010674	GM12878	blood:	n/a	n/a
9	SP1	chr2:48010042-48010397	GM12878	blood:	n/a	chr2:48010130-48010140 chr2:48010157-48010166 chr2:48010129-48010141 chr2:48010129-48010140 chr2:48010130-48010140 chr2:48010156-48010167 chr2:48010156-48010168 chr2:48010156-48010168 chr2:48010130-48010139 chr2:48010130-48010139 chr2:48010131-48010140 chr2:48010157-48010171 chr2:48010046-48010060 chr2:48010129-48010141 chr2:48010130-48010144 chr2:48010224-48010245 chr2:48010187-48010198
10	POLR2A	chr2:48009717-48010552	SK-N-SH	brain:	n/a	n/a
11	SIN3AK20	chr2:48009451-48011776	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr2:48010292-48010497	PANC-1	pancreas:	n/a	n/a
13	SMC3	chr2:48009518-48010524	Hela-S3	cervix:	n/a	n/a
14	MAX	chr2:48009528-48011580	NB4	blood:	n/a	chr2:48011032-48011042
15	POLR2A	chr2:48009627-48011001	HL-60	blood:	n/a	n/a
16	CCNT2	chr2:48009723-48011419	K562	blood:	n/a	chr2:48011044-48011053 chr2:48010131-48010140 chr2:48010643-48010652 chr2:48010993-48011002 chr2:48010712-48010721
17	CTCF	chr2:48010320-48010470	GM12865	blood:	n/a	n/a
18	POLR2A	chr2:48009642-48010925	U87	brain:	n/a	n/a
19	POLR2A	chr2:48009488-48011430	HepG2	liver:	n/a	n/a
20	CTCF	chr2:48010180-48010330	HAc	cerebellar:	n/a	chr2:48010291-48010304 chr2:48010294-48010307
21	JUND	chr2:48009510-48010538	H1-hESC	embryonic stem cell:	n/a	n/a
22	PAX5	chr2:48010154-48010466	GM12878	blood:	n/a	n/a
23	FOXM1	chr2:48009670-48010610	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:48009786-48010504	GM10847	blood:	n/a	n/a
25	SPI1	chr2:48009730-48010392	GM12878	blood:	n/a	chr2:48009943-48009956
26	MAX	chr2:48009727-48010893	HepG2	liver:	n/a	n/a
27	REST	chr2:48009658-48010636	HepG2	liver:	n/a	chr2:48010029-48010042
28	STAT5A	chr2:48009734-48010637	GM12878	blood:	n/a	chr2:48010158-48010170
29	SIN3AK20	chr2:48010132-48010585	A549	lung:	n/a	n/a
30	MYC	chr2:48010039-48010716	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF384	chr2:48010120-48010410	K562	blood:	n/a	n/a
32	BCL3	chr2:48010143-48010771	A549	lung:	n/a	chr2:48010665-48010678
33	BHLHE40	chr2:48009535-48010884	K562	blood:	n/a	n/a
34	SPI1	chr2:48009764-48010338	GM12891	blood:	n/a	chr2:48009943-48009956
35	POLR2A	chr2:48009717-48010617	ECC-1	luminal epithelium:	n/a	n/a
36	CHD2	chr2:48009671-48010970	HepG2	liver:	n/a	chr2:48010273-48010283
37	ZBTB33	chr2:48010160-48010504	A549	lung:	n/a	n/a
38	SP1	chr2:48009715-48010611	H1-hESC	embryonic stem cell:	n/a	chr2:48010130-48010140 chr2:48010157-48010166 chr2:48010129-48010141 chr2:48009881-48009888 chr2:48010129-48010140 chr2:48010130-48010140 chr2:48010156-48010167 chr2:48010156-48010168 chr2:48010156-48010168 chr2:48010130-48010139 chr2:48010130-48010139 chr2:48010131-48010140 chr2:48010157-48010171 chr2:48010046-48010060 chr2:48010129-48010141 chr2:48010130-48010144 chr2:48010224-48010245 chr2:48010187-48010198
39	MYC	chr2:48009537-48011035	A549	lung:	n/a	n/a
40	SIN3AK20	chr2:48010168-48010525	A549	lung:	n/a	n/a
41	POLR2A	chr2:48009321-48010999	Hela-S3	cervix:	n/a	n/a
42	EBF1	chr2:48009863-48010672	GM12878	blood:	n/a	n/a
43	EP300	chr2:48009619-48010969	ECC-1	luminal epithelium:	n/a	n/a
44	BCLAF1	chr2:48009585-48010673	GM12878	blood:	n/a	n/a
45	MBD4	chr2:48010071-48010531	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:48009656-48010632	PBDE	blood:	n/a	n/a
47	POLR2A	chr2:48009861-48010543	U87	brain:	n/a	n/a
48	POLR2A	chr2:48009627-48011455	K562	blood:	n/a	n/a
49	E2F6	chr2:48009686-48011751	A549	lung:	n/a	chr2:48010286-48010295 chr2:48011052-48011064 chr2:48010287-48010294 chr2:48010235-48010244 chr2:48010287-48010294 chr2:48009932-48009941 chr2:48011044-48011053 chr2:48010285-48010296 chr2:48010286-48010294 chr2:48010750-48010759 chr2:48010286-48010298 chr2:48010287-48010294 chr2:48011131-48011140
50	POLR2A	chr2:48009732-48010644	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:48009860..48010854-chr5:108745171..108745972,2	Hela-S3	cervix:
2	chr17:62501791..62502687-chr2:48009810..48010670,2	Hela-S3	cervix:
3	chr2:48008927..48012318-chr2:48131369..48134669,5	MCF-7	breast:
4	chr10:70091529..70092348-chr2:48009738..48010379,2	Hela-S3	cervix:
5	chr2:47629900..47631449-chr2:48009384..48011204,2	K562	blood:
6	chr2:47403115..47403699-chr2:48010169..48010689,2	Hela-S3	cervix:
7	chr12:52444987..52445976-chr2:48009952..48010632,2	Hela-S3	cervix:
8	chr16:27279521..27280140-chr2:48009595..48010496,2	Hela-S3	cervix:
9	chr2:48009680..48011593-chr2:48034365..48037361,4	K562	blood:
10	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:
11	chr2:48009330..48011315-chr2:48667151..48669363,2	MCF-7	breast:
12	chr2:47400478..47403818-chr2:48008752..48011597,4	K562	blood:
13	chr2:48009081..48011260-chr2:48666512..48669305,2	K562	blood:
14	chr2:48009241..48011521-chr2:48133698..48136009,2	K562	blood:
15	chr2:48010056..48010954-chr3:52570382..52571267,2	Hela-S3	cervix:
16	chr2:48009564..48012056-chr2:48131613..48133953,3	MCF-7	breast:
17	chr2:48010207..48012260-chr2:48541505..48544232,2	K562	blood:
18	chr15:75747237..75747762-chr2:48009824..48010450,2	Hela-S3	cervix:

Variant related genes	Relation type
MSH6	TF binding region
ENSG00000162869	Chromatin interaction
ENSG00000138081	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000235369	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000095002	Chromatin interaction
ENSG00000170802	Chromatin interaction
ENSG00000272663	Chromatin interaction
ENSG00000233230	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000168273	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000198961	Chromatin interaction
ENSG00000169189	Chromatin interaction
ENSG00000245888	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873999	chr2:47916074-48019485	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3392564	chr2:48009598-48012596	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48008400-48011400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:48009000-48011400	Active TSS	Rectal Smooth Muscle	rectum
3	chr2:48009000-48012400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:48009200-48012000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:48009200-48012200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:48009200-48012400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:48009200-48012600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:48009200-48012800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:48009200-48012800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:48009400-48010600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:48009400-48011000	Bivalent/Poised TSS	HepG2	liver
12	chr2:48009400-48011400	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr2:48009400-48011400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:48009400-48011400	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:48009400-48011600	Active TSS	Brain Anterior Caudate	brain
16	chr2:48009400-48011600	Active TSS	Brain Substantia Nigra	brain
17	chr2:48009400-48011600	Active TSS	Left Ventricle	heart
18	chr2:48009400-48011600	Active TSS	Pancreas	Pancrea
19	chr2:48009400-48011600	Active TSS	Psoas Muscle	Psoas
20	chr2:48009400-48011600	Active TSS	Right Ventricle	heart
21	chr2:48009400-48011600	Active TSS	Stomach Mucosa	stomach
22	chr2:48009400-48011600	Active TSS	NHEK	skin
23	chr2:48009400-48011800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:48009400-48011800	Active TSS	Brain Germinal Matrix	brain
25	chr2:48009400-48011800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:48009400-48011800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:48009400-48011800	Active TSS	Fetal Brain Female	brain
28	chr2:48009400-48011800	Active TSS	Fetal Lung	lung
29	chr2:48009400-48011800	Active TSS	Fetal Stomach	stomach
30	chr2:48009400-48011800	Active TSS	A549	lung
31	chr2:48009400-48012000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:48009400-48012000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:48009400-48012000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:48009400-48012000	Active TSS	Brain Angular Gyrus	brain
35	chr2:48009400-48012000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:48009400-48012000	Active TSS	Right Atrium	heart
37	chr2:48009400-48012000	Active TSS	NHDF-Ad	bronchial
38	chr2:48009400-48012200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr2:48009400-48012200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:48009400-48012200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:48009400-48012200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:48009400-48012200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:48009400-48012200	Active TSS	Colonic Mucosa	Colon
44	chr2:48009400-48012200	Active TSS	NHLF	lung
45	chr2:48009400-48012400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr2:48009400-48012400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:48009400-48012600	Active TSS	HSMM	muscle
48	chr2:48009400-48012800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:48009400-48013400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:48009400-48013400	Active TSS	Ovary	ovary

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