Variant report

Variant	rs73263793
Chromosome Location	chr7:21467454-21467455
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	POLR2A	chr7:21466890-21467942	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr7:21466554-21467989	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:21466307-21468243	K562	blood:	n/a	n/a
4	TAF1	chr7:21466898-21467588	A549	lung:	n/a	n/a
5	TAF1	chr7:21466953-21468225	PFSK-1	brain:	n/a	n/a
6	NFYB	chr7:21466674-21467756	Hela-S3	cervix:	n/a	chr7:21467072-21467087 chr7:21467074-21467086
7	MYC	chr7:21465887-21468372	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
8	POLR2A	chr7:21466936-21467905	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr7:21466016-21468764	IMR90	lung:	n/a	chr7:21467795-21467805 chr7:21468598-21468607 chr7:21467204-21467213 chr7:21466884-21466894
10	BHLHE40	chr7:21466592-21467809	GM12878	blood:	n/a	chr7:21466754-21466770
11	POLR2A	chr7:21466369-21468382	K562	blood:	n/a	n/a
12	YY1	chr7:21467391-21467909	H1-hESC	embryonic stem cell:	n/a	chr7:21467485-21467496 chr7:21467474-21467488 chr7:21467486-21467500 chr7:21467567-21467578
13	REST	chr7:21466896-21467647	HL-60	blood:	n/a	chr7:21467482-21467492
14	E2F6	chr7:21466140-21468479	K562	blood:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
15	POLR2A	chr7:21466493-21468279	U87	brain:	n/a	n/a
16	POLR2A	chr7:21466954-21468149	Hela-S3	cervix:	n/a	n/a
17	E2F4	chr7:21466355-21468044	MCF10A-Er-Src	breast:	n/a	chr7:21466699-21466708 chr7:21466951-21466963 chr7:21467151-21467161 chr7:21466676-21466685
18	POLR2A	chr7:21466585-21467951	HepG2	liver:	n/a	n/a
19	JUND	chr7:21466074-21468321	K562	blood:	n/a	chr7:21467775-21467784 chr7:21466700-21466709
20	POLR2A	chr7:21466594-21468038	HCT-116	colon:	n/a	n/a
21	PBX3	chr7:21466491-21468453	SK-N-SH	brain:	n/a	n/a
22	TEAD4	chr7:21466639-21467568	K562	blood:	n/a	n/a
23	POLR2A	chr7:21467026-21467508	HepG2	liver:	n/a	n/a
24	SIX5	chr7:21466721-21467532	A549	lung:	n/a	n/a
25	MXI1	chr7:21465834-21468446	IMR90	lung:	n/a	n/a
26	MAX	chr7:21466405-21468304	HepG2	liver:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
27	TAF1	chr7:21466940-21467856	K562	blood:	n/a	n/a
28	GTF2F1	chr7:21466295-21467468	Hela-S3	cervix:	n/a	n/a
29	ETS1	chr7:21466709-21467531	A549	lung:	n/a	chr7:21466715-21466726 chr7:21466712-21466723 chr7:21467488-21467499 chr7:21466905-21466916 chr7:21467151-21467162
30	MYC	chr7:21465867-21468340	K562	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
31	HEY1	chr7:21466898-21467909	HepG2	liver:	n/a	chr7:21467484-21467499 chr7:21467481-21467496
32	RFX5	chr7:21466514-21467872	Hela-S3	cervix:	n/a	n/a
33	ZKSCAN1	chr7:21466640-21467785	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr7:21466548-21468326	Hela-S3	cervix:	n/a	chr7:21468201-21468211 chr7:21467800-21467810 chr7:21467793-21467803
35	MAX	chr7:21466452-21467874	GM12878	blood:	n/a	chr7:21467795-21467805 chr7:21467204-21467213 chr7:21466884-21466894
36	SIN3AK20	chr7:21465854-21468499	MCF-7	breast:	n/a	n/a
37	CHD1	chr7:21467112-21467508	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3AK20	chr7:21467280-21467702	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr7:21466637-21468375	ECC-1	luminal epithelium:	n/a	n/a
40	ELF1	chr7:21466455-21468073	GM12878	blood:	n/a	chr7:21467487-21467499 chr7:21466898-21466910 chr7:21466712-21466721
41	POLR2A	chr7:21466162-21468469	GM12891	blood:	n/a	n/a
42	MXI1	chr7:21466294-21468351	GM12878	blood:	n/a	n/a
43	TAF1	chr7:21466539-21468268	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:21465782-21468620	H1-hESC	embryonic stem cell:	n/a	n/a
45	SMARCC1	chr7:21466145-21468697	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr7:21467415-21467918	H1-hESC	embryonic stem cell:	n/a	n/a
47	SIX5	chr7:21466761-21467483	A549	lung:	n/a	n/a
48	ETS1	chr7:21466799-21467541	GM12878	blood:	n/a	chr7:21467488-21467499 chr7:21466905-21466916 chr7:21467151-21467162
49	YY1	chr7:21466563-21467990	K562	blood:	n/a	chr7:21467485-21467496 chr7:21467474-21467488 chr7:21467154-21467165 chr7:21467486-21467500 chr7:21466712-21466721 chr7:21467567-21467578
50	POLR2A	chr7:21466512-21468356	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:21467405-21467455	BJ	skin:	n/a
2	chr7:21467405-21467455	Hela-S3	cervix:	n/a
3	chr7:21467405-21467455	NHDF-neo	bronchial:	n/a
4	chr7:21467405-21467455	HCM	heart:	n/a
5	chr7:21467405-21467455	SK-N-SH_RA	brain:	n/a
6	chr7:21467405-21467455	NH-A	brain:	n/a
7	chr7:21467405-21467455	AG09309	skin:	n/a
8	chr7:21467405-21467455	GM06990	blood:	n/a
9	chr7:21467405-21467455	MCF-7	breast:	n/a
10	chr7:21467405-21467455	U87	brain:	n/a
11	chr7:21467405-21467455	A549	lung:	n/a
12	chr7:21467405-21467455	PFSK-1	brain:	n/a
13	chr7:21467405-21467455	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:21467405-21467455	AG09319	gingival:	n/a
15	chr7:21467405-21467455	T-47D	breast:	n/a
16	chr7:21467405-21467455	H1-hESC	embryonic stem cell:	embryo
17	chr7:21467405-21467455	IMR90	lung:	fetal
18	chr7:21467405-21467455	HIPEpiC	eye:	n/a
19	chr7:21467405-21467455	Jurkat	blood:	n/a
20	chr7:21467405-21467455	RPTEC	kidney:	n/a
21	chr7:21467405-21467455	HepG2	liver:	n/a
22	chr7:21467405-21467455	SK-N-MC	brain:	n/a
23	chr7:21467405-21467455	HRPEpiC	eye:	n/a
24	chr7:21467405-21467455	HEEpiC	esophagus:	n/a
25	chr7:21467405-21467455	SK-N-SH	brain:	n/a
26	chr7:21467405-21467455	HRCEpiC	kidney:	n/a
27	chr7:21467405-21467455	ECC-1	luminal epithelium:	n/a
28	chr7:21467405-21467455	AG04450	lung:	fetal
29	chr7:21467405-21467455	GM19239	blood:	n/a
30	chr7:21467405-21467455	K562	blood:	n/a
31	chr7:21467405-21467455	SAEC	small airway:	n/a
32	chr7:21467405-21467455	GM12891	blood:	n/a
33	chr7:21467405-21467455	GM12878	blood:	n/a
34	chr7:21467405-21467455	HRE	kidney:	n/a
35	chr7:21467405-21467455	HMEC	breast:	n/a
36	chr7:21467405-21467455	NB4	blood:	n/a
37	chr7:21467405-21467455	BE2_C	brain:	n/a
38	chr7:21467405-21467455	LNCaP	prostate:	n/a
39	chr7:21467405-21467455	Caco-2	colon:	n/a
40	chr7:21467405-21467455	NHBE	bronchial:	n/a
41	chr7:21467405-21467455	AG10803	skin:	n/a
42	chr7:21467405-21467455	HCPEpiC	choroid plexus:	n/a
43	chr7:21467405-21467455	GM12892	blood:	n/a
44	chr7:21467405-21467455	ovcar-3	ovarian:	n/a
45	chr7:21467405-21467455	HAEpiC	amniotic membrane:	n/a
46	chr7:21467405-21467455	CMK	blood:	n/a
47	chr7:21467405-21467455	PrEC	prostate:	n/a
48	chr7:21467405-21467455	NT2-D1	testis:	n/a
49	chr7:21467405-21467455	HCF	heart:	n/a
50	chr7:21467405-21467455	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:90930875..90931920-chr7:21466867..21467579,3	Hela-S3	cervix:
2	chr17:56756887..56757436-chr7:21466933..21467564,2	Hela-S3	cervix:
3	chr7:21466627..21467612-chr9:137264691..137265687,2	NB4	blood:
4	chr7:21466486..21468246-chr7:21509997..21511950,2	K562	blood:
5	chr7:20258666..20260899-chr7:21466690..21469388,3	K562	blood:
6	chr5:89704759..89705573-chr7:21466952..21467883,2	Hela-S3	cervix:
7	chr17:56405577..56408427-chr7:21466025..21468331,2	K562	blood:
8	chr15:73925336..73926036-chr7:21467010..21467559,2	Hela-S3	cervix:
9	chr6:42981753..42982405-chr7:21466834..21467568,2	NB4	blood:
10	chr1:40042162..40042741-chr7:21467072..21467665,2	NB4	blood:
11	chr7:21466896..21467740-chr8:33370094..33370691,2	NB4	blood:
12	chr7:20258763..20260899-chr7:21466690..21469118,2	K562	blood:
13	chr12:6643808..6644552-chr7:21467272..21467848,2	Hela-S3	cervix:
14	chr12:57119021..57119564-chr7:21466933..21467612,2	NB4	blood:
15	chr19:39897948..39898584-chr7:21466844..21467579,2	Hela-S3	cervix:
16	chr7:21455977..21463086-chr7:21463443..21469885,12	K562	blood:
17	chr3:169490325..169491300-chr7:21467069..21467607,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDCA7L-2	chr7:21467368-21467826	NONHSAT119446

Variant related genes	Relation type
SP4	TF binding region
SP4	CpG island
ENSG00000156642	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000124702	Chromatin interaction
ENSG00000140575	Chromatin interaction
ENSG00000265148	Chromatin interaction
ENSG00000090621	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000005379	Chromatin interaction
ENSG00000266862	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000233834	Chromatin interaction
ENSG00000085274	Chromatin interaction
ENSG00000221783	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10231964	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs28397137	0.92[AFR][1000 genomes]
rs73263771	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9986768	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3347354	chr7:21466827-21469125	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21466000-21468400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:21466000-21468800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:21466000-21468800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:21466200-21467800	Active TSS	Fetal Brain Male	brain
5	chr7:21466200-21468400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:21466200-21468400	Active TSS	Gastric	stomach
7	chr7:21466200-21468600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:21466200-21468600	Active TSS	HSMMtube	muscle
9	chr7:21466200-21468800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:21466400-21467800	Active TSS	Brain Germinal Matrix	brain
11	chr7:21466400-21468400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:21466400-21468400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:21466400-21468400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:21466400-21468400	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr7:21466400-21468400	Active TSS	Brain Anterior Caudate	brain
16	chr7:21466400-21468400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:21466400-21468400	Active TSS	Esophagus	oesophagus
18	chr7:21466400-21468400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr7:21466400-21468400	Active TSS	Lung	lung
20	chr7:21466400-21468400	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr7:21466400-21468400	Active TSS	Small Intestine	intestine
22	chr7:21466400-21468400	Active TSS	Spleen	Spleen
23	chr7:21466400-21468400	Active TSS	HepG2	liver
24	chr7:21466400-21468600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:21466400-21468600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:21466400-21468600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:21466400-21468600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:21466400-21468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:21466400-21468600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:21466400-21468600	Active TSS	Aorta	Aorta
31	chr7:21466400-21468600	Active TSS	Brain Cingulate Gyrus	brain
32	chr7:21466400-21468600	Active TSS	Brain Hippocampus Middle	brain
33	chr7:21466400-21468600	Active TSS	Brain Substantia Nigra	brain
34	chr7:21466400-21468600	Active TSS	Left Ventricle	heart
35	chr7:21466400-21468600	Active TSS	Ovary	ovary
36	chr7:21466400-21468600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:21466400-21468600	Active TSS	Psoas Muscle	Psoas
38	chr7:21466400-21468600	Active TSS	Rectal Smooth Muscle	rectum
39	chr7:21466400-21468600	Active TSS	Right Ventricle	heart
40	chr7:21466400-21468600	Active TSS	HSMM	muscle
41	chr7:21466400-21468800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr7:21466400-21468800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:21466400-21468800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:21466400-21468800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:21466400-21468800	Active TSS	Brain Angular Gyrus	brain
46	chr7:21466400-21468800	Active TSS	Colon Smooth Muscle	Colon
47	chr7:21466400-21468800	Active TSS	NHDF-Ad	bronchial
48	chr7:21466400-21469000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:21466400-21469000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:21466400-21469000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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