Variant report

Variant	rs73473262
Chromosome Location	chr7:116594380-116594381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:359)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr7:116594186-116594669	A549	lung:	n/a	n/a
2	MAX	chr7:116594210-116594724	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr7:116592702-116595161	K562	blood:	n/a	n/a
4	HCFC1	chr7:116592856-116594714	K562	blood:	n/a	n/a
5	CHD1	chr7:116593065-116596444	GM12878	blood:	n/a	n/a
6	MYC	chr7:116592767-116594737	K562	blood:	n/a	n/a
7	ZMIZ1	chr7:116592857-116595159	K562	blood:	n/a	n/a
8	SRF	chr7:116594170-116594682	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr7:116594262-116594640	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr7:116592816-116594708	K562	blood:	n/a	n/a
11	MBD4	chr7:116594235-116594711	HepG2	liver:	n/a	n/a
12	TBP	chr7:116592868-116594705	H1-hESC	embryonic stem cell:	n/a	n/a
13	RUNX3	chr7:116594218-116594723	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:116594099-116594600	H1-neurons	neurons:	n/a	n/a
15	MYC	chr7:116592907-116595001	NB4	blood:	n/a	n/a
16	ZNF143	chr7:116594175-116594654	K562	blood:	n/a	n/a
17	REST	chr7:116593476-116594684	K562	blood:	n/a	n/a
18	POLR2A	chr7:116592836-116595404	K562	blood:	n/a	n/a
19	TBP	chr7:116594300-116594963	GM12878	blood:	n/a	n/a
20	SIN3AK20	chr7:116593495-116594710	K562	blood:	n/a	n/a
21	POLR2A	chr7:116592829-116594728	IMR90	lung:	n/a	n/a
22	REST	chr7:116592913-116594459	HL-60	blood:	n/a	n/a
23	WRNIP1	chr7:116594296-116594621	GM12878	blood:	n/a	n/a
24	ELF1	chr7:116594201-116594676	K562	blood:	n/a	n/a
25	POLR2A	chr7:116592633-116595475	K562	blood:	n/a	n/a
26	MAZ	chr7:116593552-116594571	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:116593043-116594719	HL-60	blood:	n/a	n/a
28	ELK1	chr7:116594017-116594673	Hela-S3	cervix:	n/a	n/a
29	REST	chr7:116594250-116594640	SK-N-SH	brain:	n/a	n/a
30	REST	chr7:116593536-116594534	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr7:116592839-116594520	HCT-116	colon:	n/a	n/a
32	MAZ	chr7:116593545-116595092	GM12878	blood:	n/a	n/a
33	HEY1	chr7:116592736-116594777	HepG2	liver:	n/a	n/a
34	MXI1	chr7:116594331-116595149	K562	blood:	n/a	n/a
35	POLR2A	chr7:116592714-116594781	K562	blood:	n/a	n/a
36	ELF1	chr7:116593435-116594480	GM12878	blood:	n/a	n/a
37	HEY1	chr7:116592794-116594722	K562	blood:	n/a	n/a
38	POLR2A	chr7:116592816-116594690	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr7:116593031-116595064	GM18526	blood:	n/a	n/a
40	ATF1	chr7:116594248-116594612	K562	blood:	n/a	n/a
41	CUX1	chr7:116594263-116595068	K562	blood:	n/a	n/a
42	GTF2F1	chr7:116592992-116594654	K562	blood:	n/a	n/a
43	UBTF	chr7:116592786-116594703	K562	blood:	n/a	n/a
44	MAX	chr7:116592744-116594754	A549	lung:	n/a	n/a
45	CREB1	chr7:116594070-116594760	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr7:116594223-116594589	K562	blood:	n/a	n/a
47	USF1	chr7:116594228-116594664	SK-N-SH_RA	brain:	n/a	n/a
48	CHD2	chr7:116593499-116594540	HepG2	liver:	n/a	n/a
49	TBL1XR1	chr7:116593528-116595142	K562	blood:	n/a	n/a
50	ZBTB7A	chr7:116593096-116594538	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:116592155..116595657-chr7:116596511..116599037,5	MCF-7	breast:
2	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:
3	chr7:116592302..116594663-chr7:116658883..116661789,2	MCF-7	breast:
4	chr16:24740656..24741578-chr7:116593739..116594602,2	HCT-116	colon:
5	chr7:116501669..116504720-chr7:116591889..116594956,5	K562	blood:
6	chr7:116591200..116595164-chr7:116659811..116663168,5	K562	blood:
7	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
8	chr11:121163184..121163771-chr7:116594188..116594742,2	HCT-116	colon:
9	chr7:116593241..116595466-chr7:116660192..116661837,2	K562	blood:
10	chr7:115849756..115851391-chr7:116592449..116595023,2	K562	blood:
11	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-2	chr7:116594293-116594733	NONHSAT122916

No data

Variant related genes	Relation type
ST7	TF binding region
ST7-OT4	TF binding region
ENSG00000228368	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000090905	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000109929	Chromatin interaction
ENSG00000135269	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73472897	0.88[AFR][1000 genomes]
rs73472900	0.88[AFR][1000 genomes]
rs73473268	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7776604	0.88[AFR][1000 genomes]
rs7782644	0.88[AFR][1000 genomes]
rs7789152	0.88[AFR][1000 genomes]
rs9771438	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3328529	chr7:116592566-116595414	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr7:116591800-116594600	Active TSS	Esophagus	oesophagus
2	chr7:116592200-116595400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:116592600-116594600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:116592600-116594800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:116592800-116594600	Active TSS	Primary T cells from cord blood	blood
6	chr7:116592800-116594600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:116592800-116594800	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:116592800-116594800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:116592800-116594800	Active TSS	Colonic Mucosa	Colon
10	chr7:116592800-116594800	Active TSS	Fetal Intestine Large	intestine
11	chr7:116592800-116594800	Active TSS	Lung	lung
12	chr7:116592800-116594800	Active TSS	Thymus	Thymus
13	chr7:116592800-116594800	Active TSS	Hela-S3	cervix
14	chr7:116592800-116594800	Bivalent/Poised TSS	HepG2	liver
15	chr7:116592800-116595000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:116592800-116595000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:116592800-116595000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:116592800-116595000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:116592800-116595000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:116592800-116595000	Active TSS	Psoas Muscle	Psoas
21	chr7:116592800-116595000	Active TSS	Stomach Mucosa	stomach
22	chr7:116592800-116595000	Active TSS	HSMMtube	muscle
23	chr7:116592800-116595200	Active TSS	Ovary	ovary
24	chr7:116592800-116595200	Active TSS	Pancreas	Pancrea
25	chr7:116592800-116595400	Active TSS	Fetal Kidney	kidney
26	chr7:116592800-116595400	Active TSS	Left Ventricle	heart
27	chr7:116592800-116595600	Active TSS	Aorta	Aorta
28	chr7:116592800-116595600	Active TSS	Right Ventricle	heart
29	chr7:116593000-116594600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:116593000-116594600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:116593000-116594600	Active TSS	Gastric	stomach
32	chr7:116593000-116594800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:116593000-116594800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:116593000-116594800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:116593000-116594800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:116593000-116594800	Active TSS	Brain Hippocampus Middle	brain
37	chr7:116593000-116594800	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:116593000-116594800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:116593000-116594800	Active TSS	Small Intestine	intestine
40	chr7:116593000-116595000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:116593000-116595000	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:116593000-116595000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:116593000-116595000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr7:116593000-116595000	Active TSS	Fetal Intestine Small	intestine
45	chr7:116593000-116595000	Active TSS	Stomach Smooth Muscle	stomach
46	chr7:116593000-116595200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr7:116593000-116595200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:116593000-116595800	Active TSS	Right Atrium	heart
49	chr7:116593200-116594400	Active TSS	Primary monocytes fromperipheralblood	blood
50	chr7:116593200-116594400	Active TSS	Primary B cells from peripheral blood	blood

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