Variant report

Variant	rs73289998
Chromosome Location	chr7:27703328-27703329
allele	G/T
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	POLR2A	chr7:27701398-27703683	K562	blood:	n/a	n/a
2	POLR2A	chr7:27702177-27703546	K562	blood:	n/a	n/a
3	TEAD4	chr7:27703263-27703696	K562	blood:	n/a	n/a
4	CTCF	chr7:27702349-27703730	K562	blood:	n/a	n/a
5	RAD21	chr7:27703231-27703763	HCT-116	colon:	n/a	n/a
6	FOXA1	chr7:27703307-27703687	HepG2	liver:	n/a	n/a
7	RAD21	chr7:27703316-27703514	K562	blood:	n/a	n/a
8	POLR2A	chr7:27701606-27703702	K562	blood:	n/a	n/a
9	HEY1	chr7:27703254-27703585	HepG2	liver:	n/a	n/a
10	FOXA2	chr7:27703303-27703677	HepG2	liver:	n/a	n/a
11	TBP	chr7:27702171-27704049	K562	blood:	n/a	n/a
12	FOXA1	chr7:27703193-27703750	HepG2	liver:	n/a	n/a
13	RAD21	chr7:27703266-27703636	A549	lung:	n/a	n/a
14	ARID3A	chr7:27703278-27703576	K562	blood:	n/a	n/a
15	JUND	chr7:27701773-27703705	K562	blood:	n/a	chr7:27702790-27702799 chr7:27702635-27702644
16	CTCF	chr7:27703300-27703450	GM12871	blood:	n/a	n/a
17	MAFF	chr7:27703324-27703711	HepG2	liver:	n/a	n/a
18	RAD21	chr7:27703200-27703841	HCT-116	colon:	n/a	n/a
19	TEAD4	chr7:27703160-27703934	K562	blood:	n/a	n/a
20	RAD21	chr7:27703230-27703679	HepG2	liver:	n/a	n/a
21	RAD21	chr7:27703245-27703626	HepG2	liver:	n/a	n/a
22	ZNF143	chr7:27703265-27703706	K562	blood:	n/a	n/a
23	POLR2A	chr7:27701624-27703620	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:27701730-27703772	K562	blood:	n/a	n/a
25	TAL1	chr7:27702262-27703734	K562	blood:	n/a	n/a
26	CTCF	chr7:27703280-27703430	HEEpiC	esophagus:	n/a	n/a
27	TAF1	chr7:27703083-27703561	K562	blood:	n/a	n/a
28	YY1	chr7:27703022-27703547	HepG2	liver:	n/a	chr7:27703077-27703093
29	TAF1	chr7:27703118-27703484	K562	blood:	n/a	n/a
30	CTCF	chr7:27703320-27703470	NHEK	skin:	n/a	n/a
31	FOXA1	chr7:27703276-27703649	T-47D	breast:	n/a	n/a
32	EGR1	chr7:27701990-27703688	HCT-116	colon:	n/a	chr7:27702511-27702520 chr7:27702516-27702525 chr7:27702533-27702546 chr7:27702791-27702801 chr7:27702517-27702526
33	CTCF	chr7:27703303-27703569	HepG2	liver:	n/a	n/a
34	YY1	chr7:27703169-27703572	K562	blood:	n/a	n/a
35	EP300	chr7:27702240-27703881	K562	blood:	n/a	chr7:27702530-27702546 chr7:27702795-27702804
36	HEY1	chr7:27703169-27703615	HepG2	liver:	n/a	n/a
37	MAFK	chr7:27703327-27703857	K562	blood:	n/a	n/a
38	ZNF384	chr7:27701095-27703727	K562	blood:	n/a	n/a
39	RFX5	chr7:27700064-27704013	SK-N-SH	brain:	n/a	chr7:27702634-27702643
40	FOXA1	chr7:27703200-27703774	HepG2	liver:	n/a	n/a
41	CBX3	chr7:27703158-27703877	K562	blood:	n/a	n/a
42	RAD21	chr7:27703299-27703626	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:27703095-27703676	K562	blood:	n/a	n/a
44	POLR2A	chr7:27703182-27703624	HCT-116	colon:	n/a	n/a
45	YY1	chr7:27703195-27703683	HepG2	liver:	n/a	n/a
46	JUN	chr7:27701498-27704050	K562	blood:	n/a	chr7:27702790-27702799 chr7:27702635-27702644
47	E2F6	chr7:27703211-27703518	K562	blood:	n/a	n/a
48	POLR2A	chr7:27703227-27703533	HepG2	liver:	n/a	n/a
49	CTCF	chr7:27703312-27703601	K562	blood:	n/a	n/a
50	MAX	chr7:27703199-27703676	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:27702844..27705316-chr7:27782990..27784557,2	K562	blood:
2	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
3	chr7:27236687..27240147-chr7:27700482..27703881,4	MCF-7	breast:
4	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
5	chr7:27702921..27706495-chr7:27708435..27711221,3	K562	blood:
6	chr7:27702869..27704371-chr7:27770712..27773615,2	K562	blood:

Variant related genes	Relation type
HIBADH	TF binding region
ENSG00000106031	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000243766	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs60339717	1.00[AMR][1000 genomes]
rs73284457	1.00[AMR][1000 genomes]
rs73284495	1.00[AMR][1000 genomes]
rs73285185	1.00[AMR][1000 genomes]
rs73286071	1.00[AMR][1000 genomes]
rs73286100	1.00[AMR][1000 genomes]
rs73287109	1.00[AMR][1000 genomes]
rs73287942	1.00[AMR][1000 genomes]
rs73287957	1.00[AMR][1000 genomes]
rs73291816	1.00[AMR][1000 genomes]
rs7810111	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27700600-27703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:27700800-27703400	Active TSS	NHLF	lung
3	chr7:27701000-27703400	Active TSS	A549	lung
4	chr7:27701000-27703400	Active TSS	HSMM	muscle
5	chr7:27701000-27703400	Active TSS	K562	blood
6	chr7:27701200-27703400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:27701200-27703400	Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:27701200-27703400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:27701200-27703600	Active TSS	NHDF-Ad	bronchial
10	chr7:27701400-27703400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:27701400-27703400	Active TSS	Aorta	Aorta
12	chr7:27701400-27703400	Active TSS	Colonic Mucosa	Colon
13	chr7:27701400-27703400	Active TSS	Fetal Intestine Large	intestine
14	chr7:27701400-27703400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:27701400-27703400	Active TSS	Ovary	ovary
16	chr7:27701400-27703600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr7:27701400-27703600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr7:27701400-27703600	Active TSS	HSMMtube	muscle
19	chr7:27701400-27703800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:27701600-27703400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:27701600-27703400	Active TSS	Brain Germinal Matrix	brain
22	chr7:27701600-27703400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:27701600-27703400	Active TSS	Esophagus	oesophagus
24	chr7:27701800-27703400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:27701800-27703400	Active TSS	Brain Anterior Caudate	brain
26	chr7:27701800-27703400	Active TSS	Fetal Kidney	kidney
27	chr7:27701800-27703400	Active TSS	Fetal Stomach	stomach
28	chr7:27701800-27703600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:27701800-27703600	Active TSS	Brain Angular Gyrus	brain
30	chr7:27701800-27703600	Active TSS	Brain Hippocampus Middle	brain
31	chr7:27701800-27703600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr7:27701800-27703600	Active TSS	Osteobl	bone
33	chr7:27702000-27703400	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:27702000-27703400	Active TSS	Psoas Muscle	Psoas
35	chr7:27702000-27703400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:27702000-27703400	Active TSS	Rectal Smooth Muscle	rectum
37	chr7:27702000-27703400	Active TSS	Right Ventricle	heart
38	chr7:27702000-27703400	Active TSS	Thymus	Thymus
39	chr7:27702000-27703400	Active TSS	NHEK	skin
40	chr7:27702000-27703600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr7:27702000-27703600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr7:27702000-27703600	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:27702000-27703800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr7:27702200-27703400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:27702400-27703400	Active TSS	HepG2	liver
46	chr7:27702600-27703400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:27702600-27703400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:27702600-27703400	Weak transcription	Small Intestine	intestine
49	chr7:27702800-27703400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:27702800-27703400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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