Variant report

Variant	rs569169770
Chromosome Location	chr1:241802767-241802768
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	MAX	chr1:241802738-241803061	K562	blood:	n/a	n/a
2	NR2F2	chr1:241802634-241803025	K562	blood:	n/a	n/a
3	POLR2A	chr1:241802685-241803962	IMR90	lung:	n/a	n/a
4	SIN3A	chr1:241802373-241803801	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:241802347-241805302	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:241802532-241804090	K562	blood:	n/a	n/a
7	POLR2A	chr1:241802492-241804229	GM18951	blood:	n/a	n/a
8	POLR2A	chr1:241802710-241804788	HepG2	liver:	n/a	n/a
9	FOXA1	chr1:241802736-241803073	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:241801599-241805416	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr1:241801561-241802852	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr1:241802366-241804244	K562	blood:	n/a	n/a
13	RCOR1	chr1:241802319-241802919	Hela-S3	cervix:	n/a	n/a
14	MYC	chr1:241801629-241802845	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr1:241802313-241804306	K562	blood:	n/a	n/a
16	SMARCB1	chr1:241802469-241805865	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:241802689-241804136	HL-60	blood:	n/a	n/a
18	POLR2A	chr1:241802477-241804098	GM19099	blood:	n/a	n/a
19	POLR2A	chr1:241802465-241804335	GM15510	blood:	n/a	n/a
20	MYC	chr1:241802314-241804137	NB4	blood:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
21	CUX1	chr1:241802287-241802895	K562	blood:	n/a	n/a
22	CHD1	chr1:241802554-241802932	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr1:241802093-241803054	MCF10A-Er-Src	breast:	n/a	n/a
24	TBP	chr1:241802314-241802855	Hela-S3	cervix:	n/a	n/a
25	MAX	chr1:241802412-241805468	Hela-S3	cervix:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
26	USF2	chr1:241802220-241802907	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr1:241802608-241803007	GM12878	blood:	n/a	n/a
28	BRCA1	chr1:241802036-241802883	Hela-S3	cervix:	n/a	n/a
29	RUNX3	chr1:241802694-241803060	GM12878	blood:	n/a	n/a
30	MYC	chr1:241802238-241804119	K562	blood:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
31	EP300	chr1:241802578-241802901	K562	blood:	n/a	n/a
32	FOXA2	chr1:241802698-241804694	A549	lung:	n/a	n/a
33	MAX	chr1:241802744-241805170	HepG2	liver:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
34	MAFK	chr1:241802226-241802902	Hela-S3	cervix:	n/a	n/a
35	IRF1	chr1:241801698-241802802	K562	blood:	n/a	chr1:241802375-241802382 chr1:241802038-241802054 chr1:241801993-241802007
36	POLR2A	chr1:241802747-241804134	NB4	blood:	n/a	n/a
37	POLR2A	chr1:241802389-241804512	GM12891	blood:	n/a	n/a
38	ARID3A	chr1:241801745-241802837	K562	blood:	n/a	n/a
39	MAZ	chr1:241802279-241804210	IMR90	lung:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
40	MAZ	chr1:241802698-241805442	Hela-S3	cervix:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
41	POLR2A	chr1:241802347-241804090	GM18505	blood:	n/a	n/a
42	MAX	chr1:241802748-241805002	HepG2	liver:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
43	MYC	chr1:241802364-241804415	K562	blood:	n/a	chr1:241804047-241804056 chr1:241803840-241803850 chr1:241804048-241804055 chr1:241804047-241804056 chr1:241804047-241804057
44	YY1	chr1:241802724-241803122	GM12892	blood:	n/a	chr1:241803004-241803015
45	YY1	chr1:241802690-241803024	SK-N-SH_RA	brain:	n/a	chr1:241803004-241803015
46	NR2F2	chr1:241802354-241803507	K562	blood:	n/a	n/a
47	POLR2A	chr1:241802614-241804139	HEK293	kidney:	n/a	n/a
48	FOXA2	chr1:241802729-241803107	A549	lung:	n/a	n/a
49	POLR2A	chr1:241802565-241804120	GM12892	blood:	n/a	n/a
50	TEAD4	chr1:241802267-241802982	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:241801309..241803243-chr1:241980186..241981798,2	MCF-7	breast:
2	chr1:241800930..241802917-chr1:241824611..241827597,2	K562	blood:
3	chr1:241693526..241696085-chr1:241801417..241805051,3	MCF-7	breast:
4	chr1:241799844..241805446-chr1:241909864..241915090,9	MCF-7	breast:
5	chr1:241801200..241805205-chr1:241910998..241914529,7	MCF-7	breast:
6	chr1:241801684..241803300-chr1:241898807..241900331,2	K562	blood:
7	chr1:241802600..241803405-chr3:197024831..197025517,2	Hela-S3	cervix:
8	chr1:241797614..241799339-chr1:241801296..241804255,2	MCF-7	breast:
9	chr1:241802310..241805173-chr1:241993132..241995327,2	K562	blood:
10	chr1:241800454..241803347-chr1:241897717..241900787,4	K562	blood:
11	chr1:241800887..241803348-chr1:241881120..241884579,4	K562	blood:
12	chr1:241801013..241803441-chr1:241985272..241988117,2	K562	blood:
13	chr1:241796724..241805103-chr1:242008052..242013159,15	K562	blood:
14	chr1:241801132..241803391-chr1:241936731..241938853,2	K562	blood:
15	chr1:241799658..241805161-chr1:242010004..242013743,14	K562	blood:
16	chr1:113498019..113498730-chr1:241802542..241803505,2	Hela-S3	cervix:
17	chr1:241800930..241803324-chr1:241824611..241827531,2	K562	blood:
18	chr1:241801957..241807032-chr1:241808533..241817679,11	K562	blood:

Variant related genes	Relation type
CHML	TF binding region
ENSG00000117009	Chromatin interaction
ENSG00000174371	Chromatin interaction
ENSG00000162843	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000227375	Chromatin interaction
ENSG00000203668	Chromatin interaction
ENSG00000075711	Chromatin interaction
ENSG00000229022	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	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv549460	chr1:241494578-241833287	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1009579	chr1:241499537-241824631	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv530112	chr1:241522031-241840269	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	nsv427963	chr1:241718799-241832833	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3399692	chr1:241802554-241805102	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr1:241788200-241802800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:241788200-241802800	Weak transcription	Esophagus	oesophagus
3	chr1:241789200-241802800	Weak transcription	Pancreas	Pancrea
4	chr1:241799600-241804400	Active TSS	Brain Angular Gyrus	brain
5	chr1:241800400-241802800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:241800400-241804200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:241800600-241802800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:241800600-241804000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:241800800-241802800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:241801000-241802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:241801000-241802800	Enhancers	Spleen	Spleen
12	chr1:241801200-241802800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:241801200-241802800	Weak transcription	Small Intestine	intestine
14	chr1:241801200-241802800	Flanking Active TSS	Dnd41	blood
15	chr1:241801200-241804000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:241801200-241804000	Active TSS	Placenta	Placenta
17	chr1:241801200-241804200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:241801200-241804200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:241801200-241804200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:241801200-241804200	Active TSS	Ovary	ovary
21	chr1:241801200-241804200	Active TSS	HSMM	muscle
22	chr1:241801400-241803000	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr1:241801400-241804000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:241801400-241804000	Active TSS	Colonic Mucosa	Colon
25	chr1:241801400-241804000	Active TSS	HSMMtube	muscle
26	chr1:241801600-241804000	Active TSS	Fetal Muscle Leg	muscle
27	chr1:241801600-241804000	Active TSS	A549	lung
28	chr1:241801600-241804000	Active TSS	GM12878-XiMat	blood
29	chr1:241801600-241804000	Active TSS	NHLF	lung
30	chr1:241801800-241803600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:241801800-241803800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:241801800-241803800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:241801800-241803800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:241801800-241803800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:241801800-241803800	Active TSS	Hela-S3	cervix
36	chr1:241801800-241804000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:241801800-241804000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:241801800-241804000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:241801800-241804000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:241801800-241804000	Active TSS	Fetal Intestine Large	intestine
41	chr1:241801800-241804000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr1:241801800-241804200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:241801800-241804200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:241801800-241804200	Active TSS	Aorta	Aorta
45	chr1:241802000-241802800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:241802000-241802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:241802000-241803600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:241802000-241803800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:241802000-241803800	Active TSS	Primary B cells from peripheral blood	blood
50	chr1:241802000-241803800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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