Variant report

Variant	rs200806733
Chromosome Location	chr1:45098297-45098298
allele	G/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	HCFC1	chr1:45098259-45098330	K562	blood:	n/a	n/a
2	POLR2A	chr1:45096921-45098491	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:45097216-45098369	SK-N-SH	brain:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
4	POLR2A	chr1:45097258-45098326	K562	blood:	n/a	n/a
5	POLR2A	chr1:45097025-45098300	NB4	blood:	n/a	n/a
6	POLR2A	chr1:45096860-45098371	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:45096855-45098361	GM12891	blood:	n/a	n/a
8	MAZ	chr1:45097030-45098696	K562	blood:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
9	POLR2A	chr1:45096740-45098410	GM12891	blood:	n/a	n/a
10	EGR1	chr1:45097054-45098313	K562	blood:	n/a	chr1:45097578-45097591 chr1:45097578-45097588 chr1:45097575-45097589 chr1:45097573-45097595 chr1:45097579-45097588 chr1:45097578-45097591
11	POLR2A	chr1:45096794-45098706	K562	blood:	n/a	n/a
12	MAZ	chr1:45096901-45099230	IMR90	lung:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
13	POLR2A	chr1:45097299-45098368	U87	brain:	n/a	n/a
14	MAX	chr1:45097015-45098392	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
15	MAX	chr1:45096972-45098404	HepG2	liver:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
16	POLR2A	chr1:45097019-45098438	Hela-S3	cervix:	n/a	n/a
17	ELF1	chr1:45097096-45098346	GM12878	blood:	n/a	chr1:45097557-45097570 chr1:45097397-45097409 chr1:45097576-45097588
18	POLR2A	chr1:45098120-45098831	K562	blood:	n/a	n/a
19	ZNF143	chr1:45098190-45098349	K562	blood:	n/a	n/a
20	POLR2A	chr1:45097019-45098315	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr1:45096631-45100261	HepG2	liver:	n/a	n/a
22	EP300	chr1:45097110-45098703	K562	blood:	n/a	chr1:45097575-45097591
23	POLR2A	chr1:45096770-45098362	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:45097236-45098317	SK-N-SH	brain:	n/a	n/a
25	PML	chr1:45098297-45098821	K562	blood:	n/a	chr1:45098599-45098607
26	MAX	chr1:45096871-45098447	HCT-116	colon:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
27	POLR2A	chr1:45096755-45098744	K562	blood:	n/a	n/a
28	NR2F2	chr1:45098112-45099165	K562	blood:	n/a	n/a
29	POLR2A	chr1:45097094-45098701	IMR90	lung:	n/a	n/a
30	POLR2A	chr1:45096207-45100173	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:45096817-45098845	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr1:45096812-45098367	HCT-116	colon:	n/a	n/a
33	POLR2A	chr1:45097117-45098309	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:45096750-45098326	GM12892	blood:	n/a	n/a
35	POLR2A	chr1:45096942-45098350	GM12878	blood:	n/a	n/a
36	POLR2A	chr1:45097176-45098341	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr1:45096868-45098401	HL-60	blood:	n/a	n/a
38	HEY1	chr1:45096599-45099431	K562	blood:	n/a	chr1:45097424-45097439 chr1:45097387-45097402 chr1:45097393-45097408
39	MAX	chr1:45097228-45098315	H1-hESC	embryonic stem cell:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
40	POLR2A	chr1:45097023-45098310	Hela-S3	cervix:	n/a	n/a
41	MAX	chr1:45097225-45098325	SK-N-SH	brain:	n/a	chr1:45097629-45097638 chr1:45097629-45097638 chr1:45097628-45097637 chr1:45097630-45097639
42	POLR2A	chr1:45097166-45098755	H1-neurons	neurons:	n/a	n/a
43	TEAD4	chr1:45098079-45099014	K562	blood:	n/a	n/a
44	POLR2A	chr1:45097029-45098327	K562	blood:	n/a	n/a
45	POLR2A	chr1:45096979-45098319	HepG2	liver:	n/a	n/a
46	TAL1	chr1:45097096-45099006	K562	blood:	n/a	n/a
47	POLR2A	chr1:45097128-45098358	GM12892	blood:	n/a	n/a
48	POLR2A	chr1:45097144-45098385	MCF10A-Er-Src	breast:	n/a	n/a
49	HCFC1	chr1:45096487-45098531	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:45097087-45098306	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:44818922..44822604-chr1:45096121..45099112,6	K562	blood:
2	chr1:45089432..45094163-chr1:45095736..45099125,6	MCF-7	breast:
3	chr1:44677773..44680547-chr1:45095385..45099072,4	K562	blood:
4	chr1:45097493..45098414-chr6:43543365..43544009,2	HCT-116	colon:
5	chr1:45077147..45081258-chr1:45096476..45100107,4	MCF-7	breast:
6	chr1:44676967..44680043-chr1:45097059..45099100,3	K562	blood:
7	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
8	chr1:45097570..45100220-chr1:45105727..45109004,3	MCF-7	breast:
9	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
10	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
11	chr1:45096334..45099417-chr1:45195073..45197438,5	K562	blood:
12	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
13	chr1:44482218..44484038-chr1:45097268..45099139,2	K562	blood:
14	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
15	chr1:45097395..45098344-chr11:8703634..8704499,2	NB4	blood:
16	chr1:44459804..44461997-chr1:45097523..45099408,2	MCF-7	breast:
17	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
18	chr1:44444668..44446709-chr1:45098219..45100033,2	K562	blood:
19	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:

Variant related genes	Relation type
RNF220	TF binding region
ENSG00000187147	Chromatin interaction
ENSG00000117419	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000159214	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000178028	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000196517	Chromatin interaction
ENSG00000124571	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv3341980	chr1:45097165-45099063	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	23 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	chr1:45096800-45098400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:45096800-45098400	Active TSS	Fetal Kidney	kidney
3	chr1:45096800-45098400	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:45096800-45099000	Active TSS	A549	lung
5	chr1:45097000-45098400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:45097000-45098400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:45097000-45098400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:45097000-45098400	Active TSS	Left Ventricle	heart
9	chr1:45097000-45098600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:45097000-45098600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:45097000-45098600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:45097200-45098400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:45097200-45098400	Active TSS	Primary T cells from cord blood	blood
14	chr1:45097200-45098400	Active TSS	Colon Smooth Muscle	Colon
15	chr1:45097200-45098400	Active TSS	Fetal Lung	lung
16	chr1:45097200-45098400	Active TSS	Gastric	stomach
17	chr1:45097200-45098400	Active TSS	Ovary	ovary
18	chr1:45097200-45098400	Active TSS	Placenta Amnion	Placenta Amnion
19	chr1:45097200-45098400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr1:45097200-45098400	Active TSS	Small Intestine	intestine
21	chr1:45097200-45098600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:45097200-45098600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:45097200-45098600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:45097200-45098600	Active TSS	Aorta	Aorta
25	chr1:45097200-45098600	Active TSS	Brain Substantia Nigra	brain
26	chr1:45097200-45098600	Active TSS	Pancreas	Pancrea
27	chr1:45097200-45098600	Active TSS	Psoas Muscle	Psoas
28	chr1:45097200-45098800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:45097200-45098800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:45097200-45099000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:45097400-45098400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:45097400-45098400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:45097400-45098400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:45097400-45098400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:45097400-45098400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:45097400-45098400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:45097400-45098400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:45097400-45098400	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:45097400-45098400	Active TSS	Brain Hippocampus Middle	brain
40	chr1:45097400-45098400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:45097400-45098400	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:45097400-45098400	Active TSS	Esophagus	oesophagus
43	chr1:45097400-45098400	Active TSS	Lung	lung
44	chr1:45097400-45098400	Active TSS	Right Ventricle	heart
45	chr1:45097400-45098400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr1:45097400-45098400	Active TSS	HSMMtube	muscle
47	chr1:45097400-45098400	Active TSS	HUVEC	blood vessel
48	chr1:45097400-45098400	Active TSS	NHLF	lung
49	chr1:45097400-45098600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:45097400-45098600	Active TSS	HUES48 Cell Line	embryonic stem cell

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