Variant report

Variant	rs113782648
Chromosome Location	chr3:46735859-46735860
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	CTCF	chr3:46735840-46735990	GM12873	blood:	n/a	n/a
2	CTCF	chr3:46735820-46735970	GM12872	blood:	n/a	n/a
3	ZBTB7A	chr3:46733763-46736413	ECC-1	luminal epithelium:	n/a	chr3:46736311-46736318 chr3:46734540-46734549

No.	Distal block	Cell Line	Cell type
1	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
2	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
3	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
4	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
5	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:

Variant related genes	Relation type
ALS2CL	TF binding region
ENSG00000181585	Chromatin interaction
ENSG00000178038	Chromatin interaction
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv10268	chr3:46707169-46736718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv876743	chr3:46716523-46753577	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
18	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
19	nsv460525	chr3:46728659-46790397	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	nsv590179	chr3:46728659-46790397	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	esv1847964	chr3:46729757-46753976	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
22	esv3438151	chr3:46734173-46736721	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46734000-46736200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:46734200-46736000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr3:46735000-46737400	Enhancers	Fetal Heart	heart
4	chr3:46735000-46739000	Enhancers	Spleen	Spleen
5	chr3:46735200-46736400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:46735200-46736800	Weak transcription	Small Intestine	intestine
7	chr3:46735200-46737200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:46735200-46737600	Weak transcription	NHLF	lung
9	chr3:46735200-46737800	Enhancers	Primary B cells from cord blood	blood
10	chr3:46735400-46736000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr3:46735400-46736000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:46735400-46736000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:46735400-46736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:46735400-46736400	Enhancers	Stomach Mucosa	stomach
15	chr3:46735400-46736600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:46735400-46736800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr3:46735400-46737000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:46735400-46737400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr3:46735400-46737600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr3:46735400-46738000	Enhancers	Dnd41	blood
21	chr3:46735400-46738000	Weak transcription	NH-A	brain
22	chr3:46735400-46739000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr3:46735600-46736000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr3:46735600-46736000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr3:46735600-46736000	Enhancers	Colon Smooth Muscle	Colon
26	chr3:46735600-46736000	Bivalent Enhancer	Fetal Stomach	stomach
27	chr3:46735600-46736200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr3:46735600-46736400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:46735600-46736400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:46735600-46736600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:46735600-46736600	Weak transcription	Gastric	stomach
32	chr3:46735600-46736800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr3:46735600-46736800	Weak transcription	GM12878-XiMat	blood
34	chr3:46735600-46737000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:46735600-46737000	Weak transcription	Hela-S3	cervix
36	chr3:46735600-46737000	Weak transcription	HSMM	muscle
37	chr3:46735600-46737200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:46735600-46737400	Weak transcription	Brain Substantia Nigra	brain
39	chr3:46735600-46737600	Weak transcription	Fetal Lung	lung
40	chr3:46735600-46737800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:46735600-46737800	Enhancers	Fetal Intestine Large	intestine
42	chr3:46735600-46738000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:46735600-46738000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr3:46735600-46738000	Enhancers	Primary hematopoietic stem cells	blood
45	chr3:46735600-46738000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:46735600-46738000	Enhancers	Pancreas	Pancrea
47	chr3:46735600-46738000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr3:46735600-46738200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:46735600-46738400	Enhancers	Thymus	Thymus
50	chr3:46735600-46738400	Enhancers	HUVEC	blood vessel

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