Variant report

Variant	rs73863393
Chromosome Location	chr3:101443691-101443692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:291)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:101443204-101444012	GM12892	blood:	n/a	n/a
2	POU2F2	chr3:101443157-101443821	GM12891	blood:	n/a	n/a
3	ETS1	chr3:101443064-101443972	A549	lung:	n/a	chr3:101443711-101443724 chr3:101443772-101443785 chr3:101443773-101443786 chr3:101443712-101443725 chr3:101443713-101443720
4	ELK1	chr3:101443283-101443863	K562	blood:	n/a	n/a
5	JUN	chr3:101443010-101443905	K562	blood:	n/a	chr3:101443273-101443282 chr3:101443883-101443891 chr3:101443879-101443890 chr3:101443884-101443891
6	YY1	chr3:101443204-101444009	ECC-1	luminal epithelium:	n/a	n/a
7	NR2F2	chr3:101443296-101444191	MCF-7	breast:	n/a	n/a
8	POLR2A	chr3:101443122-101444239	GM12878	blood:	n/a	n/a
9	SP1	chr3:101443135-101444002	A549	lung:	n/a	n/a
10	POLR2A	chr3:101443087-101443848	K562	blood:	n/a	n/a
11	MAX	chr3:101443140-101443990	SK-N-SH	brain:	n/a	n/a
12	PAX5	chr3:101443323-101443855	GM12878	blood:	n/a	n/a
13	NFIC	chr3:101443288-101443911	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr3:101443112-101444143	K562	blood:	n/a	n/a
15	CBX3	chr3:101443033-101444076	K562	blood:	n/a	chr3:101443144-101443155
16	TAF1	chr3:101443248-101443737	H1-neurons	neurons:	n/a	n/a
17	MAX	chr3:101443042-101444289	ECC-1	luminal epithelium:	n/a	n/a
18	CREB1	chr3:101443181-101443884	H1-hESC	embryonic stem cell:	n/a	n/a
19	PML	chr3:101443031-101444237	GM12878	blood:	n/a	chr3:101443305-101443314
20	BACH1	chr3:101443422-101443724	H1-hESC	embryonic stem cell:	n/a	n/a
21	E2F4	chr3:101443295-101444015	MCF10A-Er-Src	breast:	n/a	n/a
22	EGR1	chr3:101443549-101444081	MCF-7	breast:	n/a	chr3:101443689-101443702 chr3:101443773-101443797 chr3:101443700-101443724
23	ELF1	chr3:101443138-101443960	HepG2	liver:	n/a	chr3:101443691-101443700
24	POLR2A	chr3:101443123-101444549	K562	blood:	n/a	n/a
25	POLR2A	chr3:101443230-101443941	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:101443223-101444053	GM12878	blood:	n/a	n/a
27	ETS1	chr3:101443199-101443874	GM12878	blood:	n/a	chr3:101443711-101443724 chr3:101443772-101443785 chr3:101443773-101443786 chr3:101443712-101443725 chr3:101443713-101443720
28	E2F6	chr3:101443247-101444060	A549	lung:	n/a	n/a
29	REST	chr3:101443355-101444434	H1-neurons	neurons:	n/a	chr3:101444259-101444268
30	TCF7L2	chr3:101443639-101443890	MCF-7	breast:	n/a	n/a
31	TAF1	chr3:101443082-101444037	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr3:101443260-101443890	K562	blood:	n/a	n/a
33	GABPA	chr3:101443236-101443729	A549	lung:	n/a	n/a
34	MAX	chr3:101443291-101443921	K562	blood:	n/a	n/a
35	MAZ	chr3:101443210-101443864	HepG2	liver:	n/a	n/a
36	GTF2F1	chr3:101443169-101444063	K562	blood:	n/a	n/a
37	POLR2A	chr3:101443145-101444314	HCT-116	colon:	n/a	n/a
38	POLR2A	chr3:101443098-101444046	NB4	blood:	n/a	n/a
39	YY1	chr3:101443302-101443869	GM12891	blood:	n/a	n/a
40	POLR2A	chr3:101443072-101443819	HUVEC	blood vessel:	n/a	n/a
41	TBP	chr3:101443096-101443957	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr3:101443600-101443901	HepG2	liver:	n/a	n/a
43	YY1	chr3:101443241-101443969	A549	lung:	n/a	n/a
44	ELF1	chr3:101443249-101444009	GM12878	blood:	n/a	chr3:101443691-101443700
45	REST	chr3:101443408-101443876	A549	lung:	n/a	n/a
46	BCL3	chr3:101443024-101444065	A549	lung:	n/a	chr3:101443275-101443284
47	MYC	chr3:101443122-101444027	K562	blood:	n/a	n/a
48	HCFC1	chr3:101443009-101444057	K562	blood:	n/a	n/a
49	SIX5	chr3:101443061-101444178	A549	lung:	n/a	chr3:101443714-101443723 chr3:101443712-101443721
50	MYC	chr3:101443099-101444652	NB4	blood:	n/a	chr3:101444583-101444593

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:101443691-101443741	AG10803	skin:	n/a
2	chr3:101443691-101443741	AoSMC	blood vessel:	n/a
3	chr3:101443691-101443741	HRE	kidney:	n/a
4	chr3:101443691-101443741	SK-N-SH_RA	brain:	n/a
5	chr3:101443691-101443741	GM12878	blood:	n/a
6	chr3:101443691-101443741	HIPEpiC	eye:	n/a
7	chr3:101443691-101443741	IMR90	lung:	fetal
8	chr3:101443691-101443741	HMEC	breast:	n/a
9	chr3:101443691-101443741	HUVEC	blood vessel:	n/a
10	chr3:101443691-101443741	AG04449	skin:	fetal
11	chr3:101443691-101443741	AG09319	gingival:	n/a
12	chr3:101443691-101443741	HAEpiC	amniotic membrane:	n/a
13	chr3:101443691-101443741	HepG2	liver:	n/a
14	chr3:101443691-101443741	GM12891	blood:	n/a
15	chr3:101443691-101443741	SK-N-MC	brain:	n/a
16	chr3:101443691-101443741	HCT-116	colon:	n/a
17	chr3:101443691-101443741	HPAEpiC	pulmonary alveolar:	n/a
18	chr3:101443691-101443741	SKMC	muscle:	n/a
19	chr3:101443691-101443741	GM06990	blood:	n/a
20	chr3:101443691-101443741	SK-N-SH	brain:	n/a
21	chr3:101443691-101443741	MCF10A-Er-Src	breast:	n/a
22	chr3:101443691-101443741	HEK293	kidney:	embryo
23	chr3:101443691-101443741	RPTEC	kidney:	n/a
24	chr3:101443691-101443741	Jurkat	blood:	n/a
25	chr3:101443691-101443741	NHBE	bronchial:	n/a
26	chr3:101443691-101443741	HL-60	blood:	n/a
27	chr3:101443691-101443741	HEEpiC	esophagus:	n/a
28	chr3:101443691-101443741	BJ	skin:	n/a
29	chr3:101443691-101443741	HRPEpiC	eye:	n/a
30	chr3:101443691-101443741	NHDF-neo	bronchial:	n/a
31	chr3:101443691-101443741	HCM	heart:	n/a
32	chr3:101443691-101443741	U87	brain:	n/a
33	chr3:101443691-101443741	Caco-2	colon:	n/a
34	chr3:101443691-101443741	MCF-7	breast:	n/a
35	chr3:101443691-101443741	HCF	heart:	n/a
36	chr3:101443691-101443741	BE2_C	brain:	n/a
37	chr3:101443691-101443741	PrEC	prostate:	n/a
38	chr3:101443691-101443741	NB4	blood:	n/a
39	chr3:101443691-101443741	Hela-S3	cervix:	n/a
40	chr3:101443691-101443741	GM12892	blood:	n/a
41	chr3:101443691-101443741	HNPCEpiC	eye:	n/a
42	chr3:101443691-101443741	ovcar-3	ovarian:	n/a
43	chr3:101443691-101443741	AG09309	skin:	n/a
44	chr3:101443691-101443741	HRCEpiC	kidney:	n/a
45	chr3:101443691-101443741	CMK	blood:	n/a
46	chr3:101443691-101443741	LNCaP	prostate:	n/a
47	chr3:101443691-101443741	GM19239	blood:	n/a
48	chr3:101443691-101443741	A549	lung:	n/a
49	chr3:101443691-101443741	HCPEpiC	choroid plexus:	n/a
50	chr3:101443691-101443741	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:101442986..101444875-chr3:101449623..101452459,2	K562	blood:
2	chr3:101402329..101408159-chr3:101436960..101445251,11	K562	blood:
3	chr3:101394090..101397025-chr3:101443461..101445928,3	K562	blood:
4	chr3:101279212..101281211-chr3:101443101..101445753,2	MCF-7	breast:
5	chr3:101404015..101406572-chr3:101442820..101444519,2	MCF-7	breast:
6	chr3:101443470..101445204-chr3:101497641..101499611,2	MCF-7	breast:
7	chr3:101443306..101445609-chr3:101566965..101569290,3	K562	blood:

No data

Variant related genes	Relation type
CEP97	TF binding region
CEP97	CpG island
ENSG00000144815	Chromatin interaction
ENSG00000066422	Chromatin interaction
ENSG00000182504	Chromatin interaction
ENSG00000256628	Chromatin interaction
ENSG00000174173	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000114391	Chromatin interaction

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

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

rs_ID	r²[population]
rs55773602	1.00[AMR][1000 genomes]
rs61404003	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73863380	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73863394	0.86[AFR][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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 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	chr3:101442600-101443800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:101442600-101444600	Active TSS	A549	lung
3	chr3:101442600-101444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:101442600-101444800	Active TSS	Duodenum Mucosa	Duodenum
5	chr3:101442600-101444800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr3:101442600-101444800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr3:101442600-101444800	Active TSS	Right Atrium	heart
8	chr3:101442600-101445000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:101442600-101445000	Active TSS	Colonic Mucosa	Colon
10	chr3:101442600-101445400	Active TSS	K562	blood
11	chr3:101442800-101444400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:101442800-101444400	Active TSS	Thymus	Thymus
13	chr3:101442800-101444400	Active TSS	HUVEC	blood vessel
14	chr3:101442800-101444600	Active TSS	Osteobl	bone
15	chr3:101442800-101444800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr3:101442800-101444800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr3:101442800-101444800	Active TSS	Brain Germinal Matrix	brain
18	chr3:101442800-101444800	Active TSS	Fetal Intestine Large	intestine
19	chr3:101442800-101444800	Active TSS	Fetal Kidney	kidney
20	chr3:101442800-101444800	Active TSS	Psoas Muscle	Psoas
21	chr3:101442800-101444800	Active TSS	HMEC	breast
22	chr3:101442800-101445000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:101442800-101445000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr3:101442800-101445000	Active TSS	Fetal Stomach	stomach
25	chr3:101442800-101445200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:101442800-101445200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:101442800-101445200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr3:101442800-101445200	Active TSS	NHDF-Ad	bronchial
29	chr3:101442800-101445200	Active TSS	NHLF	lung
30	chr3:101442800-101445800	Active TSS	GM12878-XiMat	blood
31	chr3:101443000-101444200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:101443000-101444400	ZNF genes & repeats	Fetal Brain Male	brain
33	chr3:101443000-101444400	Active TSS	Fetal Muscle Leg	muscle
34	chr3:101443000-101444400	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr3:101443000-101444600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr3:101443000-101444600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:101443000-101444600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr3:101443000-101444600	Active TSS	Fetal Heart	heart
39	chr3:101443000-101444800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr3:101443000-101444800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr3:101443000-101444800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr3:101443000-101444800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:101443000-101444800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:101443000-101444800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:101443000-101444800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:101443000-101444800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr3:101443000-101444800	Active TSS	Brain Cingulate Gyrus	brain
48	chr3:101443000-101444800	Active TSS	Brain Hippocampus Middle	brain
49	chr3:101443000-101444800	Active TSS	Fetal Brain Female	brain
50	chr3:101443000-101444800	Active TSS	Fetal Intestine Small	intestine

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