Variant report

Variant	rs73410049
Chromosome Location	chr6:33288506-33288507
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33287995-33288774	K562	blood:	n/a	n/a
2	MAX	chr6:33288063-33288844	SK-N-SH	brain:	n/a	n/a
3	USF2	chr6:33288198-33288549	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr6:33287970-33288728	IMR90	lung:	n/a	n/a
5	GATA2	chr6:33288088-33288738	HUVEC	blood vessel:	n/a	n/a
6	JUN	chr6:33288118-33288584	K562	blood:	n/a	chr6:33288280-33288293
7	STAT3	chr6:33288148-33288584	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:33287701-33289037	K562	blood:	n/a	n/a
9	KAP1	chr6:33288280-33288764	U2OS	brain:	n/a	n/a
10	JUN	chr6:33288094-33288726	K562	blood:	n/a	chr6:33288280-33288293
11	RCOR1	chr6:33288230-33288671	K562	blood:	n/a	n/a
12	STAT3	chr6:33288149-33288707	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:33288052-33288904	SK-N-SH	brain:	n/a	n/a
14	JUND	chr6:33288417-33288617	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr6:33288152-33288578	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:33288485-33288723	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr6:33288177-33288622	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:33288128-33290518	K562	blood:	n/a	n/a
19	RCOR1	chr6:33288386-33288764	K562	blood:	n/a	n/a
20	POLR2A	chr6:33288463-33288876	GM12892	blood:	n/a	n/a
21	CREB1	chr6:33288353-33288804	H1-hESC	embryonic stem cell:	n/a	n/a
22	STAT3	chr6:33288162-33288548	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:33287740-33288773	K562	blood:	n/a	n/a
24	ZNF263	chr6:33287415-33288978	HEK293-T-REx	kidney:	n/a	chr6:33287891-33287912 chr6:33287846-33287867
25	KAP1	chr6:33288460-33288757	HEK293	kidney:	n/a	n/a
26	ATF2	chr6:33288385-33288772	H1-hESC	embryonic stem cell:	n/a	n/a
27	GATA3	chr6:33288227-33288783	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:33287981-33288712	U87	brain:	n/a	n/a
29	POLR2A	chr6:33287629-33289365	K562	blood:	n/a	n/a
30	MAZ	chr6:33288215-33288517	K562	blood:	n/a	n/a
31	MAX	chr6:33288133-33288915	SK-N-SH	brain:	n/a	n/a
32	CEBPB	chr6:33288087-33288671	Hela-S3	cervix:	n/a	n/a
33	JUN	chr6:33288140-33288577	K562	blood:	n/a	chr6:33288280-33288293
34	POLR2A	chr6:33287981-33288740	U87	brain:	n/a	n/a
35	FOS	chr6:33288151-33288721	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr6:33288141-33288615	MCF10A-Er-Src	breast:	n/a	n/a
37	EGR1	chr6:33288172-33288615	K562	blood:	n/a	n/a
38	POLR2A	chr6:33287862-33290997	IMR90	lung:	n/a	n/a
39	POLR2A	chr6:33288429-33288529	Hela-S3	cervix:	n/a	n/a
40	GATA3	chr6:33288018-33288878	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr6:33285297-33291824	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr6:33288209-33288677	MCF10A-Er-Src	breast:	n/a	n/a
43	EP300	chr6:33288194-33288534	K562	blood:	n/a	n/a
44	JUN	chr6:33287831-33289184	K562	blood:	n/a	chr6:33288280-33288293
45	MAFK	chr6:33288090-33288784	IMR90	lung:	n/a	n/a
46	MYC	chr6:33288152-33288754	MCF10A-Er-Src	breast:	n/a	n/a
47	TEAD4	chr6:33288080-33288781	K562	blood:	n/a	n/a
48	MAFK	chr6:33288021-33288580	K562	blood:	n/a	n/a
49	FOS	chr6:33288125-33288688	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr6:33288112-33288667	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:32937579..32939434-chr6:33288341..33290768,2	MCF-7	breast:
2	chr6:33259755..33275794-chr6:33276314..33291745,68	MCF-7	breast:
3	chr6:32938603..32941969-chr6:33287550..33290595,4	K562	blood:
4	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
5	chr6:33285348..33292496-chr6:33357328..33361566,13	K562	blood:
6	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
7	chr6:32938603..32941969-chr6:33287550..33290595,3	K562	blood:
8	chr6:33283943..33291558-chr6:33357867..33362243,10	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB22	TF binding region
DAXX	TF binding region
ENSG00000197283	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000112514	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000237441	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3173275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57582515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57745261	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58759132	0.88[AFR][1000 genomes]
rs58883992	0.89[AFR][1000 genomes]
rs59097151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59142568	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368071	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59531270	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60170976	0.89[AFR][1000 genomes]
rs60813085	0.80[AFR][1000 genomes]
rs6906693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6908509	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6920095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6931141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408048	0.80[AFR][1000 genomes]
rs73408053	0.82[AFR][1000 genomes]
rs73408061	0.88[AFR][1000 genomes]
rs73408065	0.88[AFR][1000 genomes]
rs73408067	0.88[AFR][1000 genomes]
rs73410003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33286200-33288600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:33286200-33288600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33286200-33289000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:33286200-33289000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr6:33286200-33289400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:33286200-33289400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:33286200-33289600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:33286200-33289600	Genic enhancers	Placenta	Placenta
9	chr6:33286200-33289600	Genic enhancers	Fetal Thymus	thymus
10	chr6:33286400-33288600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr6:33286400-33288800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:33286400-33288800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:33286400-33288800	Genic enhancers	Pancreas	Pancrea
14	chr6:33286400-33289000	Genic enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:33286400-33289000	Genic enhancers	Fetal Brain Female	brain
16	chr6:33286400-33289200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:33286400-33289200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:33286400-33289200	Genic enhancers	Liver	Liver
19	chr6:33286400-33289200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr6:33286400-33289200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:33286400-33289200	Genic enhancers	Gastric	stomach
22	chr6:33286400-33289200	Transcr. at gene 5' and 3'	Hela-S3	cervix
23	chr6:33286400-33289200	Transcr. at gene 5' and 3'	Osteobl	bone
24	chr6:33286400-33289400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:33286400-33289400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:33286400-33289400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:33286400-33289400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr6:33286400-33289400	Genic enhancers	Spleen	Spleen
29	chr6:33286400-33289600	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr6:33286400-33289600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:33286400-33289600	Genic enhancers	Fetal Intestine Small	intestine
32	chr6:33286400-33289800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:33286400-33289800	Enhancers	Right Atrium	heart
34	chr6:33286600-33288600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:33286600-33288600	Strong transcription	Colon Smooth Muscle	Colon
36	chr6:33286600-33288600	Weak transcription	Psoas Muscle	Psoas
37	chr6:33286600-33288800	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr6:33286600-33288800	Strong transcription	Brain Angular Gyrus	brain
39	chr6:33286600-33289000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr6:33286600-33289200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:33286600-33289200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:33286600-33289200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:33286600-33289200	Genic enhancers	Rectal Mucosa Donor 29	rectum
44	chr6:33286600-33289400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr6:33286600-33289400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr6:33286600-33289400	Genic enhancers	Colonic Mucosa	Colon
47	chr6:33286600-33289400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
48	chr6:33286600-33289600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:33286600-33289600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:33286800-33288600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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