Variant report

Variant	rs377020768
Chromosome Location	chr1:45309232-45309233
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	MAX	chr1:45308607-45309334	ECC-1	luminal epithelium:	n/a	chr1:45309127-45309137
2	SIN3AK20	chr1:45308774-45309238	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:45308527-45309390	SK-N-MC	brain:	n/a	n/a
4	MAZ	chr1:45308302-45309299	IMR90	lung:	n/a	chr1:45309127-45309137
5	POLR2A	chr1:45308801-45309236	K562	blood:	n/a	n/a
6	ZNF384	chr1:45308904-45309398	K562	blood:	n/a	n/a
7	TCF12	chr1:45308659-45309405	ECC-1	luminal epithelium:	n/a	n/a
8	KAP1	chr1:45308846-45309395	HEK293	kidney:	n/a	n/a
9	PBX3	chr1:45308729-45309233	SK-N-SH	brain:	n/a	chr1:45308982-45308991
10	ZNF384	chr1:45309176-45309258	GM12878	blood:	n/a	n/a
11	MAX	chr1:45308838-45309271	H1-hESC	embryonic stem cell:	n/a	chr1:45309127-45309137
12	MAZ	chr1:45308336-45309259	K562	blood:	n/a	chr1:45309127-45309137
13	TEAD4	chr1:45308492-45309250	SK-N-SH	brain:	n/a	n/a
14	NFYB	chr1:45308734-45309327	K562	blood:	n/a	chr1:45308982-45308992 chr1:45308983-45308995 chr1:45308979-45308994 chr1:45308980-45308994 chr1:45308979-45308994
15	ZBTB7A	chr1:45308439-45309379	ECC-1	luminal epithelium:	n/a	n/a
16	ZBTB7A	chr1:45308426-45309248	K562	blood:	n/a	n/a
17	POLR2A	chr1:45309178-45309500	HepG2	liver:	n/a	n/a
18	ZBTB7A	chr1:45308344-45309319	ECC-1	luminal epithelium:	n/a	n/a
19	CTBP2	chr1:45308435-45309406	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:45308226-45309261	H1-neurons	neurons:	n/a	n/a
21	NFIC	chr1:45308712-45309245	ECC-1	luminal epithelium:	n/a	n/a
22	ZNF263	chr1:45308242-45309495	HEK293-T-REx	kidney:	n/a	chr1:45309121-45309130 chr1:45309118-45309127 chr1:45308771-45308780
23	EP300	chr1:45308551-45309297	ECC-1	luminal epithelium:	n/a	chr1:45309044-45309060 chr1:45308791-45308807
24	MAZ	chr1:45308830-45309271	HepG2	liver:	n/a	chr1:45309127-45309137
25	MAZ	chr1:45308901-45309241	GM12878	blood:	n/a	chr1:45309127-45309137
26	MXI1	chr1:45308141-45309564	SK-N-SH	brain:	n/a	n/a
27	SIN3A	chr1:45308331-45309252	H1-hESC	embryonic stem cell:	n/a	chr1:45308959-45308972 chr1:45308762-45308773
28	REST	chr1:45308146-45309285	H1-neurons	neurons:	n/a	chr1:45309022-45309035 chr1:45308781-45308791 chr1:45309050-45309063 chr1:45308959-45308972
29	POLR2A	chr1:45308689-45309236	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
2	chr1:45224240..45226290-chr1:45308445..45310205,2	K562	blood:
3	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
4	chr1:45307699..45310286-chr1:45986112..45988725,2	K562	blood:
5	chr1:45185746..45188870-chr1:45307191..45310438,4	K562	blood:

Variant related genes	Relation type
PTCH2	TF binding region
ENSG00000126088	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
9	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv945913	chr1:45308885-45310435	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45307600-45309400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:45307600-45309400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:45307800-45309400	Active TSS	Fetal Kidney	kidney
4	chr1:45308000-45309400	Active TSS	Brain Cingulate Gyrus	brain
5	chr1:45308200-45309400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:45308200-45309400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:45308200-45309400	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr1:45308200-45309400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:45308200-45309400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:45308200-45309400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:45308200-45309400	Active TSS	NHLF	lung
12	chr1:45308200-45309600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:45308400-45309400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:45308400-45309400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:45308400-45309400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr1:45308400-45309400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
17	chr1:45308400-45309400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:45308400-45309400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr1:45308400-45309400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:45308400-45309400	Active TSS	Brain Angular Gyrus	brain
21	chr1:45308400-45309400	Active TSS	Colon Smooth Muscle	Colon
22	chr1:45308400-45309400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:45308400-45309400	Active TSS	Fetal Intestine Large	intestine
24	chr1:45308400-45309400	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:45308400-45309400	Active TSS	Right Atrium	heart
26	chr1:45308400-45309400	Active TSS	A549	lung
27	chr1:45308400-45309600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:45308400-45309600	Enhancers	Fetal Heart	heart
29	chr1:45308600-45309400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:45308600-45309400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:45308600-45309400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:45308600-45309400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:45308600-45309400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:45308600-45309400	Enhancers	Liver	Liver
35	chr1:45308600-45309400	Active TSS	HSMMtube	muscle
36	chr1:45308600-45309400	Active TSS	NHDF-Ad	bronchial
37	chr1:45308600-45309600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:45308600-45309600	Enhancers	Fetal Brain Male	brain
39	chr1:45308600-45309600	Active TSS	Fetal Brain Female	brain
40	chr1:45308800-45309400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:45308800-45309400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:45308800-45309400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:45308800-45309400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:45308800-45309400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:45308800-45309400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:45308800-45309400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:45308800-45309400	Active TSS	Brain Germinal Matrix	brain
48	chr1:45308800-45309400	Flanking Active TSS	Dnd41	blood
49	chr1:45308800-45309400	Active TSS	NH-A	brain
50	chr1:45308800-45309400	Active TSS	Osteobl	bone

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