Variant report

Variant	rs73476747
Chromosome Location	chr7:150807481-150807482
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr7:150806480-150808544	HEK293-T-REx	kidney:	n/a	chr7:150807263-150807272
2	POLR2A	chr7:150807342-150807485	K562	blood:	n/a	n/a
3	POLR2A	chr7:150806713-150807763	K562	blood:	n/a	n/a
4	RCOR1	chr7:150806538-150808614	IMR90	lung:	n/a	n/a
5	SMC3	chr7:150806785-150808709	SK-N-SH	brain:	n/a	chr7:150808316-150808330
6	POLR2A	chr7:150807460-150807492	MCF-7	breast:	n/a	n/a
7	JUN	chr7:150806273-150808674	K562	blood:	n/a	chr7:150808117-150808126
8	POLR2A	chr7:150807461-150807519	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150807470-150807520	HEK293	kidney:	embryo
2	chr7:150807470-150807520	GM19239	blood:	n/a
3	chr7:150807470-150807520	HRE	kidney:	n/a
4	chr7:150807470-150807520	Hepatocyte	liver:	n/a
5	chr7:150807470-150807520	Hela-S3	cervix:	n/a
6	chr7:150807470-150807520	SK-N-SH	brain:	n/a
7	chr7:150807470-150807520	HCF	heart:	n/a
8	chr7:150807470-150807520	NHBE	bronchial:	n/a
9	chr7:150807470-150807520	IMR90	lung:	fetal
10	chr7:150807470-150807520	GM12891	blood:	n/a
11	chr7:150807470-150807520	GM06990	blood:	n/a
12	chr7:150807470-150807520	BJ	skin:	n/a
13	chr7:150807470-150807520	HAEpiC	amniotic membrane:	n/a
14	chr7:150807470-150807520	ovcar-3	ovarian:	n/a
15	chr7:150807470-150807520	CMK	blood:	n/a
16	chr7:150807470-150807520	SK-N-MC	brain:	n/a
17	chr7:150807470-150807520	AG04449	skin:	fetal
18	chr7:150807470-150807520	HEEpiC	esophagus:	n/a
19	chr7:150807470-150807520	SK-N-SH_RA	brain:	n/a
20	chr7:150807470-150807520	NB4	blood:	n/a
21	chr7:150807470-150807520	Caco-2	colon:	n/a
22	chr7:150807470-150807520	HL-60	blood:	n/a
23	chr7:150807470-150807520	SKMC	muscle:	n/a
24	chr7:150807470-150807520	HRCEpiC	kidney:	n/a
25	chr7:150807470-150807520	Jurkat	blood:	n/a
26	chr7:150807470-150807520	HNPCEpiC	eye:	n/a
27	chr7:150807470-150807520	GM12878	blood:	n/a
28	chr7:150807470-150807520	PANC-1	pancreas:	n/a
29	chr7:150807470-150807520	NH-A	brain:	n/a
30	chr7:150807470-150807520	T-47D	breast:	n/a
31	chr7:150807470-150807520	PrEC	prostate:	n/a
32	chr7:150807470-150807520	A549	lung:	n/a
33	chr7:150807470-150807520	GM12892	blood:	n/a
34	chr7:150807470-150807520	AoSMC	blood vessel:	n/a
35	chr7:150807470-150807520	LNCaP	prostate:	n/a
36	chr7:150807470-150807520	HCM	heart:	n/a
37	chr7:150807470-150807520	RPTEC	kidney:	n/a
38	chr7:150807470-150807520	NHDF-neo	bronchial:	n/a
39	chr7:150807470-150807520	K562	blood:	n/a
40	chr7:150807470-150807520	HIPEpiC	eye:	n/a
41	chr7:150807470-150807520	AG09319	gingival:	n/a
42	chr7:150807470-150807520	PFSK-1	brain:	n/a
43	chr7:150807470-150807520	ProgFib	skin:	n/a
44	chr7:150807470-150807520	NT2-D1	testis:	n/a
45	chr7:150807470-150807520	HUVEC	blood vessel:	n/a
46	chr7:150807470-150807520	AG09309	skin:	n/a
47	chr7:150807470-150807520	HMEC	breast:	n/a
48	chr7:150807470-150807520	ECC-1	luminal epithelium:	n/a
49	chr7:150807470-150807520	BE2_C	brain:	n/a
50	chr7:150807470-150807520	AG04450	lung:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
2	chr7:150784397..150785064-chr7:150807380..150808355,2	MCF-7	breast:
3	chr7:150710016..150711023-chr7:150807320..150808378,4	K562	blood:
4	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
5	chr7:150806359..150808651-chr7:150915357..150918189,2	K562	blood:
6	chr7:150806408..150808627-chr7:150809184..150811009,2	MCF-7	breast:
7	chr7:150802257..150803855-chr7:150805559..150808016,2	K562	blood:

No data

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34739503	0.92[AFR][1000 genomes]
rs35593494	1.00[AFR][1000 genomes]
rs35761234	0.85[AFR][1000 genomes]
rs60011103	1.00[AFR][1000 genomes]
rs73476739	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong 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	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150787400-150807800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
5	chr7:150789400-150807800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
7	chr7:150793400-150808000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150794000-150808800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:150794800-150807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:150795000-150807800	Weak transcription	NHEK	skin
11	chr7:150797000-150807800	Weak transcription	Fetal Lung	lung
12	chr7:150797000-150808400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:150797400-150808000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:150797600-150807800	Weak transcription	Left Ventricle	heart
16	chr7:150798400-150808000	Weak transcription	Gastric	stomach
17	chr7:150798800-150807600	Weak transcription	Brain Substantia Nigra	brain
18	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
19	chr7:150799600-150808000	Weak transcription	Brain Anterior Caudate	brain
20	chr7:150801400-150807800	Weak transcription	Fetal Brain Female	brain
21	chr7:150802200-150807800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:150802200-150807800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:150802400-150807800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:150802400-150808000	Weak transcription	Fetal Intestine Large	intestine
28	chr7:150802400-150808000	Weak transcription	HMEC	breast
29	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
31	chr7:150802800-150810200	Weak transcription	HUVEC	blood vessel
32	chr7:150803200-150810000	Weak transcription	NH-A	brain
33	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:150804000-150807800	Weak transcription	Liver	Liver
35	chr7:150804000-150808000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:150804000-150808000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:150804000-150810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:150804200-150807600	Weak transcription	Brain Angular Gyrus	brain
39	chr7:150804600-150808200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:150804600-150808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:150804600-150808400	Enhancers	Adipose Nuclei	Adipose
42	chr7:150804800-150808000	Enhancers	HSMMtube	muscle
43	chr7:150805000-150808600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:150805200-150807800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:150805600-150807600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:150805600-150807600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:150805600-150808600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:150805800-150807800	Weak transcription	Brain Germinal Matrix	brain
49	chr7:150805800-150808600	Enhancers	HSMM	muscle
50	chr7:150805800-150809000	Enhancers	Fetal Muscle Trunk	muscle

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