Variant report

Variant	rs73106145
Chromosome Location	chr12:50561359-50561360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:341)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr12:50560835-50561765	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:50560672-50561973	HepG2	liver:	n/a	n/a
3	RFX5	chr12:50561106-50561483	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZKSCAN1	chr12:50560703-50561583	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr12:50560443-50561737	ECC-1	luminal epithelium:	n/a	n/a
6	TAF1	chr12:50560648-50561615	K562	blood:	n/a	n/a
7	POLR2A	chr12:50561343-50561663	A549	lung:	n/a	n/a
8	TAF1	chr12:50560354-50561664	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr12:50560583-50561752	H1-neurons	neurons:	n/a	n/a
10	YY1	chr12:50560606-50561395	NT2-D1	testis:	n/a	chr12:50560749-50560758 chr12:50561072-50561084
11	POLR2A	chr12:50560823-50561765	HepG2	liver:	n/a	n/a
12	RELA	chr12:50560811-50561604	GM15510	blood:	n/a	n/a
13	POLR2A	chr12:50560202-50561870	PFSK-1	brain:	n/a	n/a
14	MAX	chr12:50560925-50561692	SK-N-SH	brain:	n/a	chr12:50561675-50561684
15	SIN3AK20	chr12:50560979-50561392	H1-hESC	embryonic stem cell:	n/a	n/a
16	RUNX3	chr12:50560497-50561675	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:50561276-50561689	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:50560342-50561656	GM18505	blood:	n/a	n/a
19	MXI1	chr12:50560760-50561664	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:50560666-50561822	PANC-1	pancreas:	n/a	n/a
21	MAZ	chr12:50560138-50561825	IMR90	lung:	n/a	chr12:50560727-50560736 chr12:50561675-50561684
22	SP4	chr12:50560722-50561714	H1-hESC	embryonic stem cell:	n/a	n/a
23	SPI1	chr12:50561039-50561366	GM12891	blood:	n/a	n/a
24	MAX	chr12:50560480-50561748	ECC-1	luminal epithelium:	n/a	chr12:50560727-50560736 chr12:50561675-50561684
25	SIN3AK20	chr12:50560550-50561569	K562	blood:	n/a	n/a
26	JUND	chr12:50560824-50561577	H1-hESC	embryonic stem cell:	n/a	chr12:50561223-50561232
27	STAT3	chr12:50561129-50561517	MCF10A-Er-Src	breast:	n/a	chr12:50561264-50561276 chr12:50561343-50561355
28	TCF12	chr12:50560526-50561913	A549	lung:	n/a	n/a
29	HMGN3	chr12:50560701-50561658	K562	blood:	n/a	n/a
30	POLR2A	chr12:50560557-50561686	Hela-S3	cervix:	n/a	n/a
31	HCFC1	chr12:50560699-50561669	K562	blood:	n/a	n/a
32	MXI1	chr12:50559949-50561782	IMR90	lung:	n/a	n/a
33	YY1	chr12:50560428-50561564	ECC-1	luminal epithelium:	n/a	chr12:50560749-50560758 chr12:50561072-50561084
34	POLR2A	chr12:50560540-50561664	ProgFib	skin:	n/a	n/a
35	CTCF	chr12:50561025-50561362	GM12878	blood:	n/a	chr12:50561190-50561208 chr12:50561192-50561205
36	MXI1	chr12:50560503-50561614	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:50561338-50561621	HepG2	liver:	n/a	n/a
38	HEY1	chr12:50561271-50561725	K562	blood:	n/a	n/a
39	SP4	chr12:50560594-50561584	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOXA2	chr12:50561176-50561627	A549	lung:	n/a	n/a
41	ZBTB7A	chr12:50560913-50561462	HepG2	liver:	n/a	chr12:50561318-50561325
42	NR2F2	chr12:50561278-50561803	K562	blood:	n/a	n/a
43	STAT3	chr12:50561255-50561647	Hela-S3	cervix:	n/a	chr12:50561264-50561276 chr12:50561343-50561355
44	POLR2A	chr12:50560832-50561722	HCT-116	colon:	n/a	n/a
45	YY1	chr12:50560429-50561566	SK-N-SH	brain:	n/a	chr12:50560749-50560758 chr12:50561072-50561084
46	YY1	chr12:50560633-50561444	H1-hESC	embryonic stem cell:	n/a	chr12:50560749-50560758 chr12:50561072-50561084
47	POLR2A	chr12:50560563-50561660	H1-hESC	embryonic stem cell:	n/a	n/a
48	HDAC2	chr12:50560826-50561685	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr12:50560961-50561628	HepG2	liver:	n/a	n/a
50	GABPA	chr12:50560409-50561495	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50561318-50561368	MCF-7	breast:	n/a
2	chr12:50561318-50561368	HEK293	kidney:	embryo
3	chr12:50561318-50561368	AoSMC	blood vessel:	n/a
4	chr12:50561318-50561368	HMEC	breast:	n/a
5	chr12:50561318-50561368	GM12878	blood:	n/a
6	chr12:50561318-50561368	HCPEpiC	choroid plexus:	n/a
7	chr12:50561318-50561368	GM19239	blood:	n/a
8	chr12:50561318-50561368	HepG2	liver:	n/a
9	chr12:50561318-50561368	HUVEC	blood vessel:	n/a
10	chr12:50561318-50561368	PFSK-1	brain:	n/a
11	chr12:50561318-50561368	ProgFib	skin:	n/a
12	chr12:50561318-50561368	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:50561318-50561368	HAEpiC	amniotic membrane:	n/a
14	chr12:50561318-50561368	SKMC	muscle:	n/a
15	chr12:50561318-50561368	T-47D	breast:	n/a
16	chr12:50561318-50561368	HCT-116	colon:	n/a
17	chr12:50561318-50561368	NHBE	bronchial:	n/a
18	chr12:50561318-50561368	GM12891	blood:	n/a
19	chr12:50561318-50561368	BE2_C	brain:	n/a
20	chr12:50561318-50561368	AG10803	skin:	n/a
21	chr12:50561318-50561368	Jurkat	blood:	n/a
22	chr12:50561318-50561368	SK-N-SH_RA	brain:	n/a
23	chr12:50561318-50561368	NT2-D1	testis:	n/a
24	chr12:50561318-50561368	HL-60	blood:	n/a
25	chr12:50561318-50561368	LNCaP	prostate:	n/a
26	chr12:50561318-50561368	NHDF-neo	bronchial:	n/a
27	chr12:50561318-50561368	K562	blood:	n/a
28	chr12:50561318-50561368	HEEpiC	esophagus:	n/a
29	chr12:50561318-50561368	U87	brain:	n/a
30	chr12:50561318-50561368	SK-N-SH	brain:	n/a
31	chr12:50561318-50561368	HCM	heart:	n/a
32	chr12:50561318-50561368	AG04449	skin:	fetal
33	chr12:50561318-50561368	A549	lung:	n/a
34	chr12:50561318-50561368	SAEC	small airway:	n/a
35	chr12:50561318-50561368	CMK	blood:	n/a
36	chr12:50561318-50561368	Caco-2	colon:	n/a
37	chr12:50561318-50561368	Hela-S3	cervix:	n/a
38	chr12:50561318-50561368	GM06990	blood:	n/a
39	chr12:50561318-50561368	AG09319	gingival:	n/a
40	chr12:50561318-50561368	HRE	kidney:	n/a
41	chr12:50561318-50561368	NB4	blood:	n/a
42	chr12:50561318-50561368	MCF10A-Er-Src	breast:	n/a
43	chr12:50561318-50561368	HCF	heart:	n/a
44	chr12:50561318-50561368	NH-A	brain:	n/a
45	chr12:50561318-50561368	RPTEC	kidney:	n/a
46	chr12:50561318-50561368	PrEC	prostate:	n/a
47	chr12:50561318-50561368	AG04450	lung:	fetal
48	chr12:50561318-50561368	BJ	skin:	n/a
49	chr12:50561318-50561368	SK-N-MC	brain:	n/a
50	chr12:50561318-50561368	PANC-1	pancreas:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50496593..50501221-chr12:50560690..50564425,5	MCF-7	breast:
2	chr12:50477885..50480264-chr12:50559751..50562542,2	K562	blood:
3	chr12:50534374..50536702-chr12:50560898..50562585,2	MCF-7	breast:
4	chr12:50499334..50507442-chr12:50559441..50562987,11	K562	blood:
5	chr12:50561032..50562687-chr12:50794487..50796124,2	K562	blood:
6	chr12:50503967..50508677-chr12:50559559..50562905,8	MCF-7	breast:
7	chr12:50504059..50507401-chr12:50559290..50562708,7	K562	blood:
8	chr12:50477567..50484756-chr12:50559008..50565131,16	MCF-7	breast:
9	chr12:50418073..50421025-chr12:50559963..50562659,2	MCF-7	breast:
10	chr1:28908153..28908860-chr12:50560822..50561507,2	NB4	blood:
11	chr12:50560048..50562244-chr12:50793488..50796318,2	MCF-7	breast:
12	chr12:50477150..50481052-chr12:50559881..50562931,6	MCF-7	breast:
13	chr12:50503326..50508590-chr12:50559314..50563839,9	MCF-7	breast:
14	chr12:50561076..50561989-chr17:26662468..26663209,2	Hela-S3	cervix:
15	chr12:50481586..50483446-chr12:50561055..50562611,2	MCF-7	breast:
16	chr1:202778953..202781660-chr12:50561318..50563251,2	MCF-7	breast:
17	chr12:50144547..50147013-chr12:50560890..50562715,2	MCF-7	breast:
18	chr12:50560617..50562645-chr12:51025558..51027180,2	K562	blood:
19	chr12:50561156..50562922-chr12:50613932..50615830,2	K562	blood:
20	chr12:50525406..50528688-chr12:50558864..50561981,4	MCF-7	breast:

No data

Variant related genes	Relation type
CERS5	TF binding region
CERS5	CpG island
ENSG00000272368	Chromatin interaction
ENSG00000109083	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000228288	Chromatin interaction
ENSG00000207136	Chromatin interaction
ENSG00000109079	Chromatin interaction
ENSG00000161800	Chromatin interaction
ENSG00000197989	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000161813	Chromatin interaction
ENSG00000066117	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000167588	Chromatin interaction
ENSG00000260021	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10783336	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10783337	0.86[EUR][1000 genomes]
rs10783339	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783341	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10876006	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876007	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876011	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11169284	0.82[EUR][1000 genomes]
rs11169285	0.82[EUR][1000 genomes]
rs12314572	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1862044	0.83[ASN][1000 genomes]
rs2277355	0.81[EUR][1000 genomes]
rs7297864	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73106156	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7397849	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7486874	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50558800-50561800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:50559200-50561400	Active TSS	Muscle Satellite Cultured Cells	--
3	chr12:50559200-50562000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:50559400-50561400	Active TSS	NH-A	brain
5	chr12:50559400-50561600	Active TSS	Fetal Brain Female	brain
6	chr12:50559400-50561800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:50559400-50561800	Active TSS	HSMMtube	muscle
8	chr12:50559400-50561800	Active TSS	NHDF-Ad	bronchial
9	chr12:50559400-50562000	Active TSS	HSMM	muscle
10	chr12:50559400-50562200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:50559600-50561400	Active TSS	A549	lung
12	chr12:50559600-50561600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:50559600-50561800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:50559600-50562000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:50559600-50562000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:50559800-50561600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:50559800-50561800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr12:50559800-50561800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:50559800-50561800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:50559800-50561800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:50559800-50561800	Active TSS	HMEC	breast
22	chr12:50560000-50561400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:50560000-50561600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:50560000-50561600	Active TSS	Fetal Stomach	stomach
25	chr12:50560000-50561800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:50560000-50561800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:50560000-50561800	Active TSS	Fetal Kidney	kidney
28	chr12:50560000-50561800	Active TSS	GM12878-XiMat	blood
29	chr12:50560000-50561800	Active TSS	NHLF	lung
30	chr12:50560000-50562000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:50560000-50562000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:50560000-50562000	Active TSS	Rectal Smooth Muscle	rectum
33	chr12:50560000-50562200	Active TSS	HepG2	liver
34	chr12:50560200-50561400	Active TSS	Esophagus	oesophagus
35	chr12:50560200-50561800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr12:50560200-50561800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:50560200-50561800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:50560200-50561800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr12:50560200-50561800	Active TSS	Ovary	ovary
40	chr12:50560400-50561400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:50560400-50561400	Active TSS	Fetal Heart	heart
42	chr12:50560400-50561400	Active TSS	Fetal Intestine Large	intestine
43	chr12:50560400-50561400	Active TSS	Stomach Mucosa	stomach
44	chr12:50560400-50561400	Active TSS	K562	blood
45	chr12:50560400-50561400	Active TSS	Osteobl	bone
46	chr12:50560400-50561600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:50560400-50561600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:50560400-50561600	Active TSS	Right Ventricle	heart
49	chr12:50560400-50561800	Active TSS	Colon Smooth Muscle	Colon
50	chr12:50560400-50561800	Active TSS	Duodenum Smooth Muscle	Duodenum

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