Variant report

Variant	rs185538561
Chromosome Location	chr3:46735659-46735660
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	ZBTB7A	chr3:46735216-46735727	K562	blood:	n/a	n/a
2	PAX5	chr3:46735336-46735730	GM12892	blood:	n/a	n/a
3	MAX	chr3:46733849-46735719	ECC-1	luminal epithelium:	n/a	chr3:46734870-46734879 chr3:46734535-46734545 chr3:46734616-46734625 chr3:46735563-46735572
4	POLR2A	chr3:46735468-46735705	HCT-116	colon:	n/a	n/a
5	MAZ	chr3:46734593-46735696	K562	blood:	n/a	chr3:46734870-46734879 chr3:46734616-46734625 chr3:46735563-46735572
6	ZBTB7A	chr3:46733763-46736413	ECC-1	luminal epithelium:	n/a	chr3:46736311-46736318 chr3:46734540-46734549
7	BACH1	chr3:46735430-46735744	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr3:46735308-46735792	K562	blood:	n/a	chr3:46735563-46735572
9	POLR2A	chr3:46733959-46735688	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr3:46734040-46735721	IMR90	lung:	n/a	chr3:46734870-46734879 chr3:46734535-46734545 chr3:46734616-46734625 chr3:46735563-46735572
11	HMGN3	chr3:46734726-46735833	K562	blood:	n/a	chr3:46735585-46735594

No.	Distal block	Cell Line	Cell type
1	chr3:46734848..46735671-chr3:160283077..160283853,2	Hela-S3	cervix:
2	chr3:46734988..46739707-chr3:46741491..46746249,8	K562	blood:
3	chr3:46735288..46735975-chr3:46746178..46746698,2	K562	blood:
4	chr3:46735218..46737600-chr3:46738787..46741218,2	K562	blood:
5	chr3:46717709..46719534-chr3:46734745..46736639,2	MCF-7	breast:
6	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:

Variant related genes	Relation type
ALS2CL	TF binding region
ENSG00000229320	Chromatin interaction
ENSG00000181585	Chromatin interaction
ENSG00000160801	Chromatin interaction
ENSG00000178038	Chromatin interaction
ENSG00000186432	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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46734000-46736200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:46734200-46735800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:46734200-46735800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:46734200-46735800	Flanking Active TSS	Placenta	Placenta
5	chr3:46734200-46736000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr3:46734400-46735800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr3:46734400-46735800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:46734600-46735800	Active TSS	A549	lung
9	chr3:46734800-46735800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:46734800-46735800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:46734800-46735800	Active TSS	Rectal Smooth Muscle	rectum
12	chr3:46735000-46735800	Enhancers	Fetal Brain Male	brain
13	chr3:46735000-46735800	Active TSS	K562	blood
14	chr3:46735000-46735800	Active TSS	Osteobl	bone
15	chr3:46735000-46737400	Enhancers	Fetal Heart	heart
16	chr3:46735000-46739000	Enhancers	Spleen	Spleen
17	chr3:46735200-46735800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:46735200-46735800	Enhancers	HSMMtube	muscle
19	chr3:46735200-46736400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:46735200-46736800	Weak transcription	Small Intestine	intestine
21	chr3:46735200-46737200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:46735200-46737600	Weak transcription	NHLF	lung
23	chr3:46735200-46737800	Enhancers	Primary B cells from cord blood	blood
24	chr3:46735400-46735800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:46735400-46735800	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr3:46735400-46735800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr3:46735400-46735800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr3:46735400-46735800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:46735400-46735800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr3:46735400-46735800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:46735400-46735800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:46735400-46735800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:46735400-46735800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr3:46735400-46735800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr3:46735400-46735800	Flanking Active TSS	Esophagus	oesophagus
36	chr3:46735400-46735800	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr3:46735400-46735800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr3:46735400-46735800	Flanking Active TSS	Right Ventricle	heart
39	chr3:46735400-46735800	Flanking Active TSS	HMEC	breast
40	chr3:46735400-46735800	Flanking Active TSS	NHEK	skin
41	chr3:46735400-46736000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr3:46735400-46736000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:46735400-46736000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr3:46735400-46736200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:46735400-46736400	Enhancers	Stomach Mucosa	stomach
46	chr3:46735400-46736600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:46735400-46736800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr3:46735400-46737000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr3:46735400-46737400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr3:46735400-46737600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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