Variant report

Variant	rs61302621
Chromosome Location	chr3:101405637-101405638
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	USF2	chr3:101404818-101405833	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr3:101405307-101405671	GM12891	blood:	n/a	n/a
3	SP1	chr3:101405242-101405851	GM12878	blood:	n/a	n/a
4	CUX1	chr3:101405184-101405819	GM12878	blood:	n/a	n/a
5	GABPA	chr3:101405493-101405736	GM12878	blood:	n/a	n/a
6	YY1	chr3:101404956-101405870	GM12878	blood:	n/a	n/a
7	SPI1	chr3:101405275-101405969	GM12878	blood:	n/a	chr3:101405706-101405713
8	IRF4	chr3:101405174-101405895	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr3:101405374-101405870	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr3:101404294-101405983	H1-hESC	embryonic stem cell:	n/a	n/a
11	SRF	chr3:101404908-101405885	MCF-7	breast:	n/a	chr3:101405578-101405592 chr3:101405582-101405593 chr3:101405579-101405594 chr3:101405578-101405595 chr3:101405580-101405591 chr3:101405581-101405592 chr3:101405576-101405594 chr3:101405582-101405591
12	PML	chr3:101405282-101405868	GM12878	blood:	n/a	n/a
13	TAF1	chr3:101404766-101405966	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr3:101405252-101405891	A549	lung:	n/a	n/a
15	ATF3	chr3:101405454-101405788	HepG2	liver:	n/a	chr3:101405657-101405665 chr3:101405655-101405665 chr3:101405654-101405667 chr3:101405654-101405669 chr3:101405646-101405666 chr3:101405654-101405665
16	STAT3	chr3:101405564-101405863	MCF10A-Er-Src	breast:	n/a	chr3:101405704-101405711 chr3:101405791-101405800 chr3:101405790-101405799
17	SMC3	chr3:101405007-101405797	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:101404511-101405974	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr3:101404314-101405916	SK-N-SH	brain:	n/a	n/a
20	MYC	chr3:101405072-101406012	K562	blood:	n/a	chr3:101405791-101405800
21	MAX	chr3:101404876-101405946	NB4	blood:	n/a	chr3:101405791-101405800
22	SIN3AK20	chr3:101405402-101405808	PFSK-1	brain:	n/a	n/a
23	CEBPB	chr3:101405443-101405889	K562	blood:	n/a	n/a
24	TAF1	chr3:101405266-101405833	SK-N-SH	brain:	n/a	n/a
25	SP4	chr3:101405258-101405767	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr3:101405339-101405815	PANC-1	pancreas:	n/a	n/a
27	ZBTB33	chr3:101405225-101405966	HCT-116	colon:	n/a	n/a
28	POLR2A	chr3:101402873-101406294	GM12878	blood:	n/a	n/a
29	CTCF	chr3:101405264-101405732	Spleen_OC	spleen:	n/a	n/a
30	SRF	chr3:101405146-101405905	MCF-7	breast:	n/a	chr3:101405578-101405592 chr3:101405582-101405593 chr3:101405579-101405594 chr3:101405578-101405595 chr3:101405580-101405591 chr3:101405581-101405592 chr3:101405576-101405594 chr3:101405582-101405591
31	BCLAF1	chr3:101404834-101405898	GM12878	blood:	n/a	chr3:101405790-101405799 chr3:101405791-101405800
32	MBD4	chr3:101405113-101405854	HepG2	liver:	n/a	n/a
33	IRF3	chr3:101405250-101405650	GM12878	blood:	n/a	n/a
34	TAF1	chr3:101405155-101405867	GM12892	blood:	n/a	n/a
35	FOS	chr3:101405480-101405972	MCF10A-Er-Src	breast:	n/a	chr3:101405791-101405799 chr3:101405790-101405799 chr3:101405791-101405800 chr3:101405792-101405799 chr3:101405789-101405801
36	ATF3	chr3:101405380-101405961	K562	blood:	n/a	chr3:101405657-101405665 chr3:101405655-101405665 chr3:101405654-101405667 chr3:101405654-101405669 chr3:101405646-101405666 chr3:101405654-101405665
37	JUN	chr3:101405409-101405850	K562	blood:	n/a	chr3:101405791-101405799 chr3:101405790-101405799 chr3:101405653-101405666 chr3:101405791-101405800 chr3:101405792-101405799 chr3:101405789-101405801
38	SIN3AK20	chr3:101405049-101405859	PANC-1	pancreas:	n/a	n/a
39	JUN	chr3:101405158-101405921	K562	blood:	n/a	chr3:101405791-101405799 chr3:101405790-101405799 chr3:101405653-101405666 chr3:101405791-101405800 chr3:101405792-101405799 chr3:101405789-101405801
40	E2F4	chr3:101405532-101405890	MCF10A-Er-Src	breast:	n/a	chr3:101405711-101405722
41	JUND	chr3:101405278-101406281	GM12878	blood:	n/a	chr3:101405791-101405799 chr3:101405790-101405799 chr3:101405791-101405800 chr3:101405792-101405799 chr3:101405789-101405801
42	EP300	chr3:101405373-101405835	T-47D	breast:	n/a	chr3:101405790-101405799 chr3:101405658-101405666 chr3:101405791-101405800
43	ZBTB33	chr3:101405309-101405847	HepG2	liver:	n/a	n/a
44	RELA	chr3:101404847-101405871	GM10847	blood:	n/a	n/a
45	POLR2A	chr3:101405236-101405876	GM10847	blood:	n/a	n/a
46	POLR2A	chr3:101404534-101405897	PANC-1	pancreas:	n/a	n/a
47	MAX	chr3:101405083-101405884	ECC-1	luminal epithelium:	n/a	chr3:101405791-101405800
48	SRF	chr3:101405213-101405827	ECC-1	luminal epithelium:	n/a	chr3:101405578-101405592 chr3:101405582-101405593 chr3:101405579-101405594 chr3:101405578-101405595 chr3:101405580-101405591 chr3:101405581-101405592 chr3:101405576-101405594 chr3:101405582-101405591
49	YY1	chr3:101405073-101405892	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr3:101404930-101406029	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:159894811..159895698-chr3:101405185..101405704,2	Hela-S3	cervix:
2	chr3:101405192..101407713-chr3:101497187..101499121,2	MCF-7	breast:
3	chr3:101405090..101405836-chr9:127702816..127703490,2	Hela-S3	cervix:
4	chr3:39448010..39448706-chr3:101404983..101405656,2	Hela-S3	cervix:
5	chr3:101405211..101405953-chr5:132202117..132202982,2	Hela-S3	cervix:
6	chr3:101404159..101406579-chr3:101567632..101570275,3	MCF-7	breast:
7	chr3:101405049..101407728-chr3:101567101..101569807,3	K562	blood:
8	chr10:98592030..98592614-chr3:101405121..101405644,2	Hela-S3	cervix:
9	chr3:101280171..101282152-chr3:101404234..101406900,2	MCF-7	breast:
10	chr3:101293011..101294602-chr3:101404209..101407193,2	K562	blood:
11	chr3:101290641..101295184-chr3:101404268..101406806,5	MCF-7	breast:
12	chr11:46615628..46616226-chr3:101405144..101405659,2	Hela-S3	cervix:
13	chr3:101291201..101295304-chr3:101402286..101407928,8	MCF-7	breast:
14	chr3:101404070..101405661-chr3:101567915..101569714,2	MCF-7	breast:
15	chr12:69978776..69979556-chr3:101405520..101406020,2	HCT-116	colon:
16	chr3:101402329..101408159-chr3:101436960..101445251,11	K562	blood:
17	chr3:101402475..101407282-chr3:101443751..101448081,5	K562	blood:
18	chr3:101403905..101405852-chr3:101497702..101499506,2	MCF-7	breast:
19	chr12:22198711..22199449-chr3:101404905..101405783,2	HCT-116	colon:
20	chr3:101404015..101406572-chr3:101442820..101444519,2	MCF-7	breast:
21	chr3:101405141..101405682-chr7:45150716..45151680,2	Hela-S3	cervix:
22	chr12:12510113..12510632-chr3:101405456..101406387,2	Hela-S3	cervix:
23	chr1:200589537..200590182-chr3:101405310..101405939,2	Hela-S3	cervix:

Variant related genes	Relation type
RPL24	TF binding region
ENSG00000164405	Chromatin interaction
ENSG00000118193	Chromatin interaction
ENSG00000136270	Chromatin interaction
ENSG00000136935	Chromatin interaction
ENSG00000144815	Chromatin interaction
ENSG00000182504	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000081154	Chromatin interaction
ENSG00000166226	Chromatin interaction
ENSG00000196233	Chromatin interaction
ENSG00000111726	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000110497	Chromatin interaction
ENSG00000164404	Chromatin interaction
ENSG00000174173	Chromatin interaction
ENSG00000168028	Chromatin interaction
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs16844264	1.00[AMR][1000 genomes]
rs56871732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57288874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57768297	1.00[AMR][1000 genomes]
rs58060577	1.00[AMR][1000 genomes]
rs59212280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59610252	1.00[AMR][1000 genomes]
rs59761426	1.00[AMR][1000 genomes]
rs59790563	1.00[AMR][1000 genomes]
rs60451587	1.00[AMR][1000 genomes]
rs60491518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61468230	1.00[AMR][1000 genomes]
rs61473551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931705	1.00[AMR][1000 genomes]
rs72931709	1.00[AMR][1000 genomes]
rs72931710	1.00[AMR][1000 genomes]
rs72931711	1.00[AMR][1000 genomes]
rs72931715	1.00[AMR][1000 genomes]
rs72931719	1.00[AMR][1000 genomes]
rs72931774	1.00[AMR][1000 genomes]
rs72931789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72933808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72933810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72933821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72933838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935852	1.00[AMR][1000 genomes]
rs72935865	1.00[AMR][1000 genomes]
rs72935871	1.00[AMR][1000 genomes]
rs72935875	1.00[AMR][1000 genomes]
rs72935894	1.00[AMR][1000 genomes]
rs72937635	1.00[AMR][1000 genomes]
rs72937638	1.00[AMR][1000 genomes]
rs72937639	1.00[AMR][1000 genomes]
rs72937642	1.00[AMR][1000 genomes]
rs72937646	1.00[AMR][1000 genomes]
rs72937653	1.00[AMR][1000 genomes]
rs72937664	1.00[AMR][1000 genomes]
rs72937667	1.00[AMR][1000 genomes]
rs72937684	1.00[AMR][1000 genomes]
rs72937701	1.00[AMR][1000 genomes]
rs72937810	1.00[AMR][1000 genomes]
rs72937817	1.00[AMR][1000 genomes]
rs72939605	1.00[AMR][1000 genomes]
rs72939606	1.00[AMR][1000 genomes]
rs72942266	1.00[AMR][1000 genomes]
rs72942288	1.00[AMR][1000 genomes]
rs72944104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944117	1.00[AMR][1000 genomes]
rs72946006	1.00[AMR][1000 genomes]
rs72946019	1.00[AMR][1000 genomes]
rs72946027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946028	1.00[AMR][1000 genomes]
rs72947370	1.00[AMR][1000 genomes]
rs72947385	1.00[AMR][1000 genomes]
rs72948009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948019	1.00[AMR][1000 genomes]
rs72948050	1.00[AMR][1000 genomes]
rs72948052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948055	1.00[AMR][1000 genomes]
rs72948056	1.00[AMR][1000 genomes]
rs72948070	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 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	chr3:101403200-101406000	Active TSS	Psoas Muscle	Psoas
2	chr3:101403200-101406600	Active TSS	Right Ventricle	heart
3	chr3:101403600-101405800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:101403600-101406000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:101403600-101406800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:101403800-101406400	Active TSS	Ovary	ovary
7	chr3:101403800-101406600	Active TSS	Right Atrium	heart
8	chr3:101404200-101406000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:101404200-101406000	Active TSS	Colonic Mucosa	Colon
10	chr3:101404200-101406200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:101404200-101406200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:101404200-101406200	Active TSS	Esophagus	oesophagus
13	chr3:101404200-101406200	Active TSS	Lung	lung
14	chr3:101404200-101406200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr3:101404200-101406600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr3:101404400-101406000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:101404400-101406000	Active TSS	Thymus	Thymus
18	chr3:101404400-101406200	Active TSS	Brain Angular Gyrus	brain
19	chr3:101404400-101406200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:101404400-101406200	Active TSS	Fetal Brain Female	brain
21	chr3:101404400-101406200	Active TSS	Fetal Intestine Large	intestine
22	chr3:101404400-101406200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr3:101404400-101406200	Active TSS	NH-A	brain
24	chr3:101404400-101406400	Active TSS	Fetal Intestine Small	intestine
25	chr3:101404400-101406400	Active TSS	Left Ventricle	heart
26	chr3:101404400-101406400	Active TSS	GM12878-XiMat	blood
27	chr3:101404400-101406600	Active TSS	NHLF	lung
28	chr3:101404400-101406800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:101404600-101406000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:101404600-101406000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr3:101404600-101406000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr3:101404600-101406200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:101404600-101406200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:101404600-101406200	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr3:101404600-101406200	Active TSS	Gastric	stomach
36	chr3:101404600-101406200	Active TSS	Hela-S3	cervix
37	chr3:101404600-101406200	Active TSS	HMEC	breast
38	chr3:101404600-101406200	Active TSS	HSMMtube	muscle
39	chr3:101404600-101406200	Active TSS	HUVEC	blood vessel
40	chr3:101404600-101406200	Active TSS	NHDF-Ad	bronchial
41	chr3:101404600-101406400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:101404600-101406400	Active TSS	Liver	Liver
43	chr3:101404600-101406400	Active TSS	Brain Germinal Matrix	brain
44	chr3:101404600-101406400	Active TSS	Pancreas	Pancrea
45	chr3:101404600-101406600	Active TSS	Duodenum Mucosa	Duodenum
46	chr3:101404600-101406600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr3:101404800-101405800	Active TSS	Spleen	Spleen
48	chr3:101404800-101406000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr3:101404800-101406000	Active TSS	Primary T cells fromperipheralblood	blood
50	chr3:101404800-101406000	Active TSS	Primary hematopoietic stem cells short term culture	blood

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