Variant report

Variant	rs73410228
Chromosome Location	chr6:36591725-36591726
allele	A/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	MTA3	chr6:36590967-36592349	GM12878	blood:	n/a	n/a
2	PAX5	chr6:36591639-36591880	GM12878	blood:	n/a	n/a
3	CHD2	chr6:36591271-36591729	GM12878	blood:	n/a	n/a
4	PAX5	chr6:36591457-36592085	GM12878	blood:	n/a	n/a
5	PAX5	chr6:36591618-36592035	GM12878	blood:	n/a	n/a
6	MYBL2	chr6:36591125-36592110	HepG2	liver:	n/a	n/a
7	NFIC	chr6:36591197-36592043	GM12878	blood:	n/a	n/a
8	CTCF	chr6:36591700-36591850	NHLF	lung:	n/a	n/a
9	RCOR1	chr6:36591079-36591932	IMR90	lung:	n/a	n/a
10	RUNX3	chr6:36590976-36592030	GM12878	blood:	n/a	n/a
11	RAD21	chr6:36590546-36591835	SK-N-SH	brain:	n/a	chr6:36591384-36591403
12	ELF1	chr6:36591596-36592247	GM12878	blood:	n/a	chr6:36592021-36592034 chr6:36592024-36592033
13	MXI1	chr6:36590754-36592351	IMR90	lung:	n/a	n/a
14	ELF1	chr6:36591694-36592224	GM12878	blood:	n/a	chr6:36592021-36592034 chr6:36592024-36592033
15	POU2F2	chr6:36591619-36592022	GM12878	blood:	n/a	n/a
16	MXI1	chr6:36591244-36592033	GM12878	blood:	n/a	n/a
17	PAX5	chr6:36591194-36592004	GM12878	blood:	n/a	n/a
18	ZNF263	chr6:36591089-36591771	HEK293-T-REx	kidney:	n/a	chr6:36591463-36591472
19	POU2F2	chr6:36591662-36591825	GM12878	blood:	n/a	n/a
20	RELA	chr6:36591236-36591953	GM19099	blood:	n/a	n/a
21	CTCF	chr6:36590842-36591984	SK-N-SH	brain:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
22	POLR2A	chr6:36591415-36592040	GM12892	blood:	n/a	n/a
23	STAT5A	chr6:36591695-36592033	GM12878	blood:	n/a	n/a
24	PBX3	chr6:36591578-36591920	GM12878	blood:	n/a	n/a
25	NFATC1	chr6:36591375-36592055	GM12878	blood:	n/a	n/a
26	PML	chr6:36591080-36592097	GM12878	blood:	n/a	n/a
27	SMC3	chr6:36591182-36592098	HepG2	liver:	n/a	chr6:36591385-36591399 chr6:36591209-36591216
28	CTCF	chr6:36590944-36591747	A549	lung:	n/a	chr6:36591385-36591406 chr6:36591383-36591401
29	BHLHE40	chr6:36591192-36591918	GM12878	blood:	n/a	n/a
30	CTCF	chr6:36591721-36591801	Hela-S3	cervix:	n/a	n/a
31	BCL3	chr6:36591554-36591960	GM12878	blood:	n/a	n/a
32	NFATC1	chr6:36591556-36592033	GM12878	blood:	n/a	n/a
33	MAZ	chr6:36590709-36591754	IMR90	lung:	n/a	n/a
34	MAX	chr6:36591252-36592025	GM12878	blood:	n/a	n/a
35	FOXM1	chr6:36591129-36591845	GM12878	blood:	n/a	n/a
36	CEBPB	chr6:36591161-36592167	GM12878	blood:	n/a	n/a
37	POU2F2	chr6:36591204-36592062	GM12878	blood:	n/a	n/a
38	BCL3	chr6:36591560-36592107	GM12878	blood:	n/a	n/a
39	NFIC	chr6:36591063-36592032	GM12878	blood:	n/a	n/a
40	MXI1	chr6:36590950-36591819	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr6:36591720-36591870	BJ	skin:	n/a	n/a
42	TCF3	chr6:36591526-36591955	GM12878	blood:	n/a	chr6:36591628-36591644 chr6:36591629-36591644
43	ATF2	chr6:36591133-36592053	GM12878	blood:	n/a	n/a
44	SMC3	chr6:36591119-36591729	GM12878	blood:	n/a	chr6:36591385-36591399 chr6:36591209-36591216 chr6:36591128-36591142
45	POU2F2	chr6:36591611-36592036	GM12891	blood:	n/a	n/a
46	STAT5A	chr6:36591045-36592160	GM12878	blood:	n/a	chr6:36591393-36591405
47	RAD21	chr6:36591187-36591903	GM12878	blood:	n/a	chr6:36591384-36591403
48	STAT3	chr6:36591062-36591734	GM12878	blood:	n/a	chr6:36591393-36591405
49	RUNX3	chr6:36590963-36592085	GM12878	blood:	n/a	n/a
50	MAZ	chr6:36591190-36591971	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36590930..36591805-chr6:36726654..36727603,2	MCF-7	breast:
2	chr10:8098923..8100872-chr6:36590438..36592818,2	MCF-7	breast:
3	chr6:36591678..36593501-chr6:36719178..36722554,3	MCF-7	breast:
4	chr6:36588192..36591183-chr6:36591330..36594102,4	MCF-7	breast:
5	chr6:36590906..36591946-chr6:36647029..36648637,8	MCF-7	breast:
6	chr6:36583476..36586327-chr6:36590404..36592946,3	K562	blood:
7	chr6:36590968..36593681-chr6:36692597..36695208,2	MCF-7	breast:
8	chr6:36590778..36592536-chr6:36722666..36725629,2	MCF-7	breast:
9	chr6:36591006..36591734-chr6:36692485..36693014,2	MCF-7	breast:
10	chr6:36590922..36591850-chr6:36647865..36648817,7	MCF-7	breast:
11	chr6:36590960..36591893-chr6:36725819..36727563,13	K562	blood:
12	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
13	chr6:36591305..36591878-chr6:36692059..36693073,8	K562	blood:
14	chr6:36589213..36595227-chr6:36645571..36651666,9	K562	blood:
15	chr6:36591348..36591899-chr6:36668578..36669604,3	K562	blood:
16	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
17	chr6:36591713..36594218-chr6:36617666..36619384,2	MCF-7	breast:
18	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:
19	chr6:36590986..36591856-chr6:36647878..36648875,10	K562	blood:

Variant related genes	Relation type
MIR3925	TF binding region
ENSG00000124772	Chromatin interaction
ENSG00000263894	Chromatin interaction
ENSG00000124762	Chromatin interaction
ENSG00000107485	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11552549	0.91[AFR][1000 genomes]
rs17553386	0.91[AFR][1000 genomes]
rs3087654	0.91[AFR][1000 genomes]
rs56799886	0.91[AFR][1000 genomes]
rs56814071	0.91[AFR][1000 genomes]
rs56845418	0.91[AFR][1000 genomes]
rs56900755	0.91[AFR][1000 genomes]
rs56900950	0.91[AFR][1000 genomes]
rs58073599	0.91[AFR][1000 genomes]
rs59274016	0.91[AFR][1000 genomes]
rs59569857	0.91[AFR][1000 genomes]
rs59715484	0.91[AFR][1000 genomes]
rs61631302	0.91[AFR][1000 genomes]
rs73408319	0.91[AFR][1000 genomes]
rs73408322	0.91[AFR][1000 genomes]
rs73408323	0.91[AFR][1000 genomes]
rs73408324	0.91[AFR][1000 genomes]
rs73408326	0.91[AFR][1000 genomes]
rs73408327	0.91[AFR][1000 genomes]
rs73408336	0.91[AFR][1000 genomes]
rs73408342	0.91[AFR][1000 genomes]
rs73408346	0.91[AFR][1000 genomes]
rs73408347	0.91[AFR][1000 genomes]
rs73408349	0.91[AFR][1000 genomes]
rs73408352	0.91[AFR][1000 genomes]
rs73408354	0.91[AFR][1000 genomes]
rs73408356	0.91[AFR][1000 genomes]
rs73408360	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408367	0.91[AFR][1000 genomes]
rs73408370	0.86[AFR][1000 genomes]
rs73408373	0.86[AFR][1000 genomes]
rs73408383	0.91[AFR][1000 genomes]
rs73408387	0.91[AFR][1000 genomes]
rs73408389	0.91[AFR][1000 genomes]
rs73408391	0.91[AFR][1000 genomes]
rs73408394	0.91[AFR][1000 genomes]
rs73408396	0.91[AFR][1000 genomes]
rs73408399	0.91[AFR][1000 genomes]
rs73408400	0.91[AFR][1000 genomes]
rs73410211	0.91[AFR][1000 genomes]
rs73410214	0.91[AFR][1000 genomes]
rs73410218	0.82[AFR][1000 genomes]
rs73410225	0.91[AFR][1000 genomes]
rs73410227	0.91[AFR][1000 genomes]
rs73410230	0.91[AFR][1000 genomes]
rs73410234	0.91[AFR][1000 genomes]
rs73410235	0.91[AFR][1000 genomes]
rs73410246	0.91[AFR][1000 genomes]
rs73410247	0.91[AFR][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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36577400-36595200	Weak transcription	Psoas Muscle	Psoas
2	chr6:36577800-36595200	Weak transcription	Small Intestine	intestine
3	chr6:36580200-36599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:36580400-36593000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:36581400-36604400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:36582200-36595400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:36582800-36610800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:36585400-36592800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:36585600-36592200	Weak transcription	Fetal Brain Female	brain
10	chr6:36586800-36593000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:36587000-36592600	Weak transcription	Aorta	Aorta
12	chr6:36587000-36597000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:36588800-36595400	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:36589400-36592400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:36590200-36592000	Enhancers	Fetal Heart	heart
16	chr6:36590200-36592000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:36590200-36593400	Enhancers	Adipose Nuclei	Adipose
18	chr6:36590400-36592000	Enhancers	A549	lung
19	chr6:36590400-36592200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:36590400-36592400	Enhancers	Primary B cells from cord blood	blood
21	chr6:36590400-36593600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:36590400-36593600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:36590600-36592000	Enhancers	Placenta	Placenta
24	chr6:36590600-36592200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:36590600-36592200	Enhancers	Fetal Thymus	thymus
26	chr6:36590600-36592200	Enhancers	HSMM	muscle
27	chr6:36590600-36592400	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:36590600-36593200	Enhancers	Colonic Mucosa	Colon
29	chr6:36590600-36593400	Enhancers	Fetal Intestine Large	intestine
30	chr6:36590600-36593400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:36590600-36593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:36590600-36596000	Enhancers	Fetal Muscle Leg	muscle
33	chr6:36590800-36591800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:36590800-36591800	Enhancers	Esophagus	oesophagus
35	chr6:36590800-36591800	Enhancers	Right Atrium	heart
36	chr6:36590800-36591800	Enhancers	NHEK	skin
37	chr6:36590800-36592000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:36590800-36592000	Enhancers	Lung	lung
39	chr6:36590800-36592400	Enhancers	Brain Hippocampus Middle	brain
40	chr6:36590800-36592400	Enhancers	Spleen	Spleen
41	chr6:36590800-36592600	Enhancers	HSMMtube	muscle
42	chr6:36590800-36592600	Enhancers	NHDF-Ad	bronchial
43	chr6:36590800-36592600	Enhancers	NHLF	lung
44	chr6:36590800-36592800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:36590800-36592800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:36590800-36593200	Enhancers	Liver	Liver
47	chr6:36590800-36593200	Enhancers	Fetal Intestine Small	intestine
48	chr6:36590800-36593400	Enhancers	Stomach Mucosa	stomach
49	chr6:36590800-36593600	Enhancers	Colon Smooth Muscle	Colon
50	chr6:36590800-36593600	Enhancers	Fetal Muscle Trunk	muscle

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