Variant report

Variant	rs72644873
Chromosome Location	chr12:50303809-50303810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:50303754-50303919	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr12:50303227-50304348	MCF-7	breast:	n/a	n/a
3	E2F6	chr12:50303553-50304181	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr12:50303243-50304154	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr12:50303749-50303865	K562	blood:	n/a	n/a
6	EGR1	chr12:50303296-50304092	MCF-7	breast:	n/a	n/a
7	POLR2A	chr12:50303780-50303850	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr12:50303394-50304223	MCF-7	breast:	n/a	n/a
9	TBP	chr12:50303647-50303882	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr12:50303568-50303953	Hela-S3	cervix:	n/a	n/a
11	MAX	chr12:50303592-50304100	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr12:50303298-50304105	IMR90	lung:	n/a	n/a
13	CEBPB	chr12:50303627-50304049	Hela-S3	cervix:	n/a	n/a
14	E2F6	chr12:50303348-50304105	K562	blood:	n/a	n/a
15	MYC	chr12:50303577-50304089	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr12:50303591-50303951	Hela-S3	cervix:	n/a	n/a
17	TBP	chr12:50303668-50303987	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:50303562-50303938	HCT-116	colon:	n/a	n/a
19	MYC	chr12:50303645-50304019	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:50303566-50303944	HCT-116	colon:	n/a	n/a
21	RAD21	chr12:50303746-50303997	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr12:50303458-50304178	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr12:50303758-50304007	Hela-S3	cervix:	n/a	n/a
24	EGR1	chr12:50303445-50304106	ECC-1	luminal epithelium:	n/a	n/a
25	RFX5	chr12:50303690-50303942	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:50303607-50303840	MCF-7	breast:	n/a	n/a
27	MAFK	chr12:50303627-50303894	Hela-S3	cervix:	n/a	n/a
28	USF2	chr12:50303625-50303951	Hela-S3	cervix:	n/a	n/a
29	ZNF263	chr12:50303165-50303952	HEK293-T-REx	kidney:	n/a	n/a
30	NR2F2	chr12:50303476-50304139	MCF-7	breast:	n/a	n/a
31	MAX	chr12:50303641-50304382	NB4	blood:	n/a	n/a
32	MXI1	chr12:50303591-50304049	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr12:50303676-50303980	K562	blood:	n/a	n/a
34	CBX3	chr12:50303693-50304041	K562	blood:	n/a	n/a
35	EGR1	chr12:50303403-50304185	HCT-116	colon:	n/a	n/a
36	SMARCB1	chr12:50303265-50304193	Hela-S3	cervix:	n/a	n/a
37	MAX	chr12:50303611-50303993	K562	blood:	n/a	n/a
38	BHLHE40	chr12:50303727-50303965	K562	blood:	n/a	n/a
39	MAX	chr12:50303696-50304026	K562	blood:	n/a	n/a
40	ZKSCAN1	chr12:50303680-50304001	Hela-S3	cervix:	n/a	n/a
41	MAX	chr12:50303663-50304062	HepG2	liver:	n/a	n/a
42	TCF7L2	chr12:50303588-50304302	Hela-S3	cervix:	n/a	n/a
43	MAX	chr12:50303671-50304066	H1-hESC	embryonic stem cell:	n/a	n/a
44	NR2F2	chr12:50303411-50304407	MCF-7	breast:	n/a	n/a
45	POLR2A	chr12:50303408-50304078	SK-N-MC	brain:	n/a	n/a
46	EGR1	chr12:50303683-50304003	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr12:50303608-50304067	NB4	blood:	n/a	n/a
48	SETDB1	chr12:50303745-50304040	U2OS	brain:	n/a	n/a
49	MAX	chr12:50303354-50304427	HCT-116	colon:	n/a	n/a
50	POLR2A	chr12:50303598-50303848	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50303785-50303835	HepG2	liver:	n/a
2	chr12:50303785-50303835	GM12892	blood:	n/a
3	chr12:50303785-50303835	AG09309	skin:	n/a
4	chr12:50303785-50303835	PFSK-1	brain:	n/a
5	chr12:50303785-50303835	AG04450	lung:	fetal
6	chr12:50303785-50303835	RPTEC	kidney:	n/a
7	chr12:50303785-50303835	Hepatocyte	liver:	n/a
8	chr12:50303785-50303835	ProgFib	skin:	n/a
9	chr12:50303785-50303835	SAEC	small airway:	n/a
10	chr12:50303785-50303835	HCM	heart:	n/a
11	chr12:50303785-50303835	HL-60	blood:	n/a
12	chr12:50303785-50303835	T-47D	breast:	n/a
13	chr12:50303785-50303835	PANC-1	pancreas:	n/a
14	chr12:50303785-50303835	NHBE	bronchial:	n/a
15	chr12:50303785-50303835	BE2_C	brain:	n/a
16	chr12:50303785-50303835	GM06990	blood:	n/a
17	chr12:50303785-50303835	K562	blood:	n/a
18	chr12:50303785-50303835	CMK	blood:	n/a
19	chr12:50303785-50303835	NT2-D1	testis:	n/a
20	chr12:50303785-50303835	SK-N-SH	brain:	n/a
21	chr12:50303785-50303835	IMR90	lung:	fetal
22	chr12:50303785-50303835	AG09319	gingival:	n/a
23	chr12:50303785-50303835	GM19239	blood:	n/a
24	chr12:50303785-50303835	HUVEC	blood vessel:	n/a
25	chr12:50303785-50303835	ECC-1	luminal epithelium:	n/a
26	chr12:50303785-50303835	SK-N-MC	brain:	n/a
27	chr12:50303785-50303835	AG04449	skin:	fetal
28	chr12:50303785-50303835	AoSMC	blood vessel:	n/a
29	chr12:50303785-50303835	NB4	blood:	n/a
30	chr12:50303785-50303835	LNCaP	prostate:	n/a
31	chr12:50303785-50303835	HCT-116	colon:	n/a
32	chr12:50303785-50303835	HEK293	kidney:	embryo
33	chr12:50303785-50303835	NH-A	brain:	n/a
34	chr12:50303785-50303835	HNPCEpiC	eye:	n/a
35	chr12:50303785-50303835	HCF	heart:	n/a
36	chr12:50303785-50303835	NHDF-neo	bronchial:	n/a
37	chr12:50303785-50303835	SK-N-SH_RA	brain:	n/a
38	chr12:50303785-50303835	SKMC	muscle:	n/a
39	chr12:50303785-50303835	HRE	kidney:	n/a
40	chr12:50303785-50303835	PrEC	prostate:	n/a
41	chr12:50303785-50303835	HRCEpiC	kidney:	n/a
42	chr12:50303785-50303835	HMEC	breast:	n/a
43	chr12:50303785-50303835	Hela-S3	cervix:	n/a
44	chr12:50303785-50303835	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:50303785-50303835	U87	brain:	n/a
46	chr12:50303785-50303835	MCF-7	breast:	n/a
47	chr12:50303785-50303835	HIPEpiC	eye:	n/a
48	chr12:50303785-50303835	AG10803	skin:	n/a
49	chr12:50303785-50303835	HRPEpiC	eye:	n/a
50	chr12:50303785-50303835	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:50302143..50304526-chr12:50326820..50329441,2	K562	blood:
2	chr12:50259475..50261235-chr12:50302095..50303974,2	MCF-7	breast:
3	chr12:50301650..50304024-chr12:50450316..50452712,2	MCF-7	breast:
4	chr12:50280749..50283185-chr12:50302000..50304856,3	MCF-7	breast:
5	chr12:50303280..50304785-chr12:50307920..50310046,2	K562	blood:
6	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
7	chr12:50302479..50304923-chr12:50336805..50339549,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAIM2-1	chr12:50302668-50304837	XLOC_010072
2	lnc-FAIM2-1	chr12:50302676-50304837	ENSG00000258135
3	lnc-FAIM2-1	chr12:50302666-50304837	NONHSAT028150

No data

Variant related genes	Relation type
ENSG00000257771	TF binding region
ENSG00000257771	CpG island
ENSG00000110881	Chromatin interaction
ENSG00000135472	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12312614	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12422556	0.83[ASN][1000 genomes]
rs12422575	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424268	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12424404	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12426614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426750	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12427024	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12427051	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17124129	0.88[AMR][1000 genomes]
rs17124131	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs184172	0.92[ASN][1000 genomes]
rs2276187	0.91[EUR][1000 genomes]
rs2298640	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298641	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55984325	0.91[EUR][1000 genomes]
rs58494052	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59862432	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61416142	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72644872	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72644874	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72644875	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72644876	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv525920	chr12:50285061-50304949	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558836	chr12:50290023-50316439	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50298200-50307800	Weak transcription	Right Atrium	heart
2	chr12:50298400-50308000	Weak transcription	Pancreas	Pancrea
3	chr12:50302800-50304800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50302800-50305200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr12:50303000-50304000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:50303000-50304000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:50303000-50304400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:50303000-50304400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:50303000-50304400	Enhancers	K562	blood
10	chr12:50303000-50304600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:50303000-50304600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:50303200-50304200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:50303200-50304200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr12:50303200-50304200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:50303200-50304200	Enhancers	NH-A	brain
16	chr12:50303200-50304400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:50303200-50304400	Enhancers	HMEC	breast
18	chr12:50303200-50304600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:50303200-50304600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr12:50303200-50304800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:50303200-50304800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:50303200-50304800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:50303200-50306400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:50303400-50304000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr12:50303400-50304000	Enhancers	Brain Germinal Matrix	brain
26	chr12:50303400-50304000	Bivalent Enhancer	HepG2	liver
27	chr12:50303400-50304000	Enhancers	NHEK	skin
28	chr12:50303400-50304200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:50303400-50304200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:50303400-50304200	Flanking Active TSS	Hela-S3	cervix
31	chr12:50303400-50304200	Enhancers	HUVEC	blood vessel
32	chr12:50303400-50304400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:50303400-50304400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr12:50303400-50304400	Enhancers	Stomach Mucosa	stomach
35	chr12:50303400-50304600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:50303400-50311800	Weak transcription	Gastric	stomach
37	chr12:50303600-50304000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:50303600-50304200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:50303600-50304200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:50303600-50304200	Enhancers	Fetal Muscle Leg	muscle
41	chr12:50303800-50304200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:50303800-50304200	Enhancers	Esophagus	oesophagus
43	chr12:50303800-50304200	Enhancers	Placenta	Placenta
44	chr12:50303800-50304600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:50303800-50304800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr12:50303800-50307600	Weak transcription	Fetal Heart	heart

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