Variant report

Variant	rs73663107
Chromosome Location	chr8:11208097-11208098
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	UBTF	chr8:11207714-11208542	K562	blood:	n/a	n/a
2	TBL1XR1	chr8:11207695-11208592	K562	blood:	n/a	n/a
3	GTF2F1	chr8:11207793-11208097	K562	blood:	n/a	n/a
4	TBP	chr8:11207757-11208619	K562	blood:	n/a	n/a
5	MAX	chr8:11207563-11208137	K562	blood:	n/a	chr8:11207915-11207924
6	RCOR1	chr8:11207712-11208613	K562	blood:	n/a	n/a
7	POLR2A	chr8:11207740-11208131	K562	blood:	n/a	n/a
8	CBX3	chr8:11207603-11208161	K562	blood:	n/a	n/a
9	STAT5A	chr8:11207609-11208746	K562	blood:	n/a	n/a
10	CHD2	chr8:11207783-11208118	K562	blood:	n/a	n/a
11	POLR2A	chr8:11207570-11208196	K562	blood:	n/a	n/a
12	CEBPD	chr8:11207631-11208228	K562	blood:	n/a	n/a
13	IRF1	chr8:11207659-11208567	K562	blood:	n/a	n/a
14	ATF3	chr8:11207702-11208193	K562	blood:	n/a	n/a
15	GATA1	chr8:11207773-11208148	K562	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
16	JUN	chr8:11207720-11208167	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
17	ZMIZ1	chr8:11207699-11208667	K562	blood:	n/a	n/a
18	CREB1	chr8:11207567-11208771	K562	blood:	n/a	n/a
19	POLR2A	chr8:11207595-11208280	K562	blood:	n/a	n/a
20	MXI1	chr8:11207588-11208499	SK-N-SH	brain:	n/a	n/a
21	CEBPD	chr8:11207619-11208681	K562	blood:	n/a	n/a
22	EGR1	chr8:11207702-11208186	HCT-116	colon:	n/a	chr8:11207932-11207945 chr8:11207931-11207946 chr8:11207872-11207887
23	JUN	chr8:11207664-11208519	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
24	FOSL1	chr8:11207667-11208115	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973 chr8:11207914-11207925
25	ATF1	chr8:11207768-11208156	K562	blood:	n/a	n/a
26	PML	chr8:11207647-11208746	K562	blood:	n/a	chr8:11208204-11208212
27	GATA2	chr8:11207640-11208728	K562	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
28	JUN	chr8:11207726-11208151	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
29	NR2F2	chr8:11207614-11208662	K562	blood:	n/a	n/a
30	CEBPB	chr8:11207679-11208588	K562	blood:	n/a	n/a
31	EP300	chr8:11207389-11208736	K562	blood:	n/a	chr8:11208121-11208131
32	FOSL1	chr8:11207677-11208137	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973 chr8:11207914-11207925
33	GATA1	chr8:11207716-11208226	PBDE	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
34	TRIM28	chr8:11207550-11208705	K562	blood:	n/a	chr8:11208204-11208212
35	YY1	chr8:11207735-11208101	K562	blood:	n/a	n/a
36	PML	chr8:11207572-11208804	K562	blood:	n/a	chr8:11208204-11208212
37	POLR2A	chr8:11207788-11208104	K562	blood:	n/a	n/a
38	FOS	chr8:11207715-11208133	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
39	MAFK	chr8:11207766-11208628	K562	blood:	n/a	n/a
40	ELF1	chr8:11207759-11208124	K562	blood:	n/a	n/a
41	JUN	chr8:11207245-11208706	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
42	MAFF	chr8:11207737-11208624	K562	blood:	n/a	n/a
43	MYC	chr8:11207671-11208629	K562	blood:	n/a	chr8:11207915-11207924
44	HDAC2	chr8:11207686-11208115	K562	blood:	n/a	n/a
45	EP300	chr8:11207712-11208127	K562	blood:	n/a	n/a
46	CTCF	chr8:11207805-11208150	K562	blood:	n/a	n/a
47	MYC	chr8:11207676-11208574	K562	blood:	n/a	chr8:11207915-11207924
48	ZNF274	chr8:11207764-11208576	K562	blood:	n/a	n/a
49	MAZ	chr8:11207708-11208186	K562	blood:	n/a	chr8:11207915-11207924
50	BHLHE40	chr8:11207644-11208566	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11202674..11205995-chr8:11206285..11210798,7	K562	blood:
2	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
3	chr8:11140914..11143471-chr8:11206296..11209213,2	K562	blood:
4	chr8:11202546..11204675-chr8:11207385..11211000,3	MCF-7	breast:
5	chr8:11205933..11210781-chr8:11211287..11215199,6	K562	blood:

Variant related genes	Relation type
ENSG00000255020	TF binding region
ENSG00000255020	Chromatin interaction
ENSG00000104643	Chromatin interaction
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73663103	1.00[AFR][1000 genomes]
rs73663105	1.00[AFR][1000 genomes]
rs73663106	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv890355	chr8:11202154-11219334	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11205600-11208400	Flanking Active TSS	K562	blood
2	chr8:11206200-11225000	Weak transcription	Psoas Muscle	Psoas
3	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:11207200-11223600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:11207800-11208200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:11208000-11208200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr8:11208000-11208200	Enhancers	A549	lung
8	chr8:11208000-11217600	Weak transcription	Pancreas	Pancrea
9	chr8:11208000-11222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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