Variant report

Variant	rs73313417
Chromosome Location	chr12:64173573-64173574
allele	A/C
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	chr12:64173495-64174313	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:64173559-64174392	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr12:64173570-64173812	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:64173375-64174391	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:64173377-64174513	GM12892	blood:	n/a	n/a
6	SIN3AK20	chr12:64173535-64174401	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:64173310-64174373	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr12:64173316-64174306	GM18526	blood:	n/a	n/a
9	TEAD4	chr12:64173526-64173915	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr12:64173342-64174264	GM12878	blood:	n/a	chr12:64173550-64173559 chr12:64173547-64173561
11	SP1	chr12:64173202-64174185	A549	lung:	n/a	chr12:64173551-64173560 chr12:64173589-64173601 chr12:64173591-64173600 chr12:64173550-64173560 chr12:64173591-64173600 chr12:64173589-64173601 chr12:64173590-64173599 chr12:64173550-64173559 chr12:64173579-64173589 chr12:64173549-64173561 chr12:64173982-64173995 chr12:64173550-64173560 chr12:64173551-64173560 chr12:64173546-64173560 chr12:64173579-64173589 chr12:64173549-64173561
12	GABPA	chr12:64173568-64174017	HepG2	liver:	n/a	n/a
13	TAF1	chr12:64173405-64174198	K562	blood:	n/a	n/a
14	SRF	chr12:64173568-64174231	ECC-1	luminal epithelium:	n/a	n/a
15	YY1	chr12:64173440-64174268	K562	blood:	n/a	chr12:64173550-64173559 chr12:64173547-64173561
16	CTCF	chr12:64173480-64173630	AG04449	skin:	n/a	n/a
17	POLR2A	chr12:64173566-64174538	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:64173252-64174211	SK-N-SH	brain:	n/a	n/a
19	CHD2	chr12:64173285-64174347	GM12878	blood:	n/a	chr12:64173564-64173574
20	POLR2A	chr12:64173314-64174377	GM18951	blood:	n/a	n/a
21	SIN3A	chr12:64173326-64174528	H1-hESC	embryonic stem cell:	n/a	chr12:64173958-64173969 chr12:64173605-64173614
22	RUNX3	chr12:64173534-64174407	GM12878	blood:	n/a	n/a
23	FOXM1	chr12:64173534-64174265	GM12878	blood:	n/a	n/a
24	TCF12	chr12:64173426-64174481	ECC-1	luminal epithelium:	n/a	chr12:64173955-64173965
25	POLR2A	chr12:64173335-64174253	U87	brain:	n/a	n/a
26	SIN3AK20	chr12:64173330-64174526	MCF-7	breast:	n/a	n/a
27	CHD2	chr12:64173411-64174368	Hela-S3	cervix:	n/a	chr12:64173564-64173574
28	ZBTB7A	chr12:64173267-64174046	K562	blood:	n/a	n/a
29	GABPA	chr12:64173472-64174422	A549	lung:	n/a	chr12:64173550-64173559
30	POLR2A	chr12:64173151-64174323	U87	brain:	n/a	n/a
31	BHLHE40	chr12:64173351-64174319	K562	blood:	n/a	n/a
32	YY1	chr12:64173541-64173985	HCT-116	colon:	n/a	chr12:64173550-64173559 chr12:64173547-64173561
33	HMGN3	chr12:64173542-64174142	K562	blood:	n/a	n/a
34	POLR2A	chr12:64173292-64174332	GM12878	blood:	n/a	n/a
35	ELF1	chr12:64173520-64174216	SK-N-SH	brain:	n/a	n/a
36	RELA	chr12:64173324-64174332	GM15510	blood:	n/a	n/a
37	GABPA	chr12:64173569-64174093	Hela-S3	cervix:	n/a	n/a
38	MAX	chr12:64173140-64174536	A549	lung:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
39	POLR2A	chr12:64173259-64174481	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr12:64173169-64175918	MCF10A-Er-Src	breast:	n/a	n/a
41	MAX	chr12:64173336-64174377	Hela-S3	cervix:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
42	PML	chr12:64173487-64174128	K562	blood:	n/a	n/a
43	HDAC2	chr12:64173298-64173979	HepG2	liver:	n/a	n/a
44	CREB1	chr12:64173380-64174175	GM12878	blood:	n/a	n/a
45	MAX	chr12:64173333-64174455	HCT-116	colon:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
46	GABPA	chr12:64173321-64174503	MCF-7	breast:	n/a	chr12:64173550-64173559
47	E2F6	chr12:64173247-64174587	A549	lung:	n/a	chr12:64173550-64173559 chr12:64173554-64173564
48	MYC	chr12:64173395-64174378	Hela-S3	cervix:	n/a	chr12:64174158-64174171 chr12:64174158-64174168 chr12:64174160-64174167 chr12:64173548-64173558 chr12:64174162-64174169
49	POLR2A	chr12:64173255-64174304	A549	lung:	n/a	n/a
50	NR2F2	chr12:64173519-64174284	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64173542-64173592	HCT-116	colon:	n/a
2	chr12:64173542-64173592	HRCEpiC	kidney:	n/a
3	chr12:64173542-64173592	HL-60	blood:	n/a
4	chr12:64173542-64173592	ProgFib	skin:	n/a
5	chr12:64173542-64173592	HIPEpiC	eye:	n/a
6	chr12:64173542-64173592	Hepatocyte	liver:	n/a
7	chr12:64173542-64173592	LNCaP	prostate:	n/a
8	chr12:64173542-64173592	BJ	skin:	n/a
9	chr12:64173542-64173592	HAEpiC	amniotic membrane:	n/a
10	chr12:64173542-64173592	HCPEpiC	choroid plexus:	n/a
11	chr12:64173542-64173592	AG09319	gingival:	n/a
12	chr12:64173542-64173592	ovcar-3	ovarian:	n/a
13	chr12:64173542-64173592	HRE	kidney:	n/a
14	chr12:64173542-64173592	SK-N-MC	brain:	n/a
15	chr12:64173542-64173592	MCF-7	breast:	n/a
16	chr12:64173542-64173592	HPAEpiC	pulmonary alveolar:	n/a
17	chr12:64173542-64173592	GM06990	blood:	n/a
18	chr12:64173542-64173592	NT2-D1	testis:	n/a
19	chr12:64173542-64173592	U87	brain:	n/a
20	chr12:64173542-64173592	GM19239	blood:	n/a
21	chr12:64173542-64173592	SK-N-SH	brain:	n/a
22	chr12:64173542-64173592	Jurkat	blood:	n/a
23	chr12:64173542-64173592	AoSMC	blood vessel:	n/a
24	chr12:64173542-64173592	Hela-S3	cervix:	n/a
25	chr12:64173542-64173592	PANC-1	pancreas:	n/a
26	chr12:64173542-64173592	CMK	blood:	n/a
27	chr12:64173542-64173592	AG09309	skin:	n/a
28	chr12:64173542-64173592	Caco-2	colon:	n/a
29	chr12:64173542-64173592	BE2_C	brain:	n/a
30	chr12:64173542-64173592	PrEC	prostate:	n/a
31	chr12:64173542-64173592	IMR90	lung:	fetal
32	chr12:64173542-64173592	PFSK-1	brain:	n/a
33	chr12:64173542-64173592	NHBE	bronchial:	n/a
34	chr12:64173542-64173592	A549	lung:	n/a
35	chr12:64173542-64173592	NB4	blood:	n/a
36	chr12:64173542-64173592	AG04450	lung:	fetal
37	chr12:64173542-64173592	SAEC	small airway:	n/a
38	chr12:64173542-64173592	HMEC	breast:	n/a
39	chr12:64173542-64173592	SK-N-SH_RA	brain:	n/a
40	chr12:64173542-64173592	HEEpiC	esophagus:	n/a
41	chr12:64173542-64173592	NHDF-neo	bronchial:	n/a
42	chr12:64173542-64173592	GM12878	blood:	n/a
43	chr12:64173542-64173592	MCF10A-Er-Src	breast:	n/a
44	chr12:64173542-64173592	NH-A	brain:	n/a
45	chr12:64173542-64173592	HEK293	kidney:	embryo
46	chr12:64173542-64173592	K562	blood:	n/a
47	chr12:64173542-64173592	H1-hESC	embryonic stem cell:	embryo
48	chr12:64173542-64173592	SKMC	muscle:	n/a
49	chr12:64173542-64173592	HepG2	liver:	n/a
50	chr12:64173542-64173592	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64172533..64176121-chr12:64194832..64198679,5	K562	blood:
2	chr12:64172395..64175865-chr12:64176316..64181928,12	K562	blood:
3	chr12:64172631..64179011-chr12:64187703..64190145,6	MCF-7	breast:
4	chr12:64172589..64175160-chr12:64189373..64193026,5	MCF-7	breast:
5	chr12:64172802..64174995-chr12:64236940..64239856,2	MCF-7	breast:

Variant related genes	Relation type
TMEM5	TF binding region
TMEM5	CpG island
ENSG00000249753	Chromatin interaction
ENSG00000196935	Chromatin interaction
ENSG00000118600	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11175172	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11175174	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2279964	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3791156	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6581507	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs949956	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64172800-64173600	Flanking Active TSS	Dnd41	blood
2	chr12:64172800-64174200	Active TSS	Fetal Kidney	kidney
3	chr12:64172800-64174400	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr12:64172800-64174400	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:64172800-64174600	Active TSS	Brain Anterior Caudate	brain
6	chr12:64172800-64175200	Active TSS	K562	blood
7	chr12:64173000-64173600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:64173000-64173600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:64173000-64174200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr12:64173000-64174200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:64173000-64174200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:64173000-64174200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:64173000-64174200	Active TSS	Fetal Heart	heart
14	chr12:64173000-64174200	Active TSS	Fetal Lung	lung
15	chr12:64173000-64174200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:64173000-64174200	Active TSS	Osteobl	bone
17	chr12:64173000-64174400	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr12:64173000-64174400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64173000-64174400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:64173000-64174400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:64173000-64174400	Active TSS	Brain Cingulate Gyrus	brain
22	chr12:64173000-64174400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:64173000-64174600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:64173000-64174600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:64173000-64174600	Active TSS	Brain Angular Gyrus	brain
26	chr12:64173000-64174600	Active TSS	Stomach Smooth Muscle	stomach
27	chr12:64173000-64174800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:64173000-64174800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:64173000-64174800	Active TSS	GM12878-XiMat	blood
30	chr12:64173000-64174800	Active TSS	NHDF-Ad	bronchial
31	chr12:64173000-64175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:64173000-64175000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:64173000-64175000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:64173000-64175000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:64173200-64173600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:64173200-64173600	Flanking Active TSS	HMEC	breast
37	chr12:64173200-64173800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:64173200-64173800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:64173200-64174000	Active TSS	Primary hematopoietic stem cells	blood
40	chr12:64173200-64174000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr12:64173200-64174200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:64173200-64174200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:64173200-64174200	Active TSS	Adipose Nuclei	Adipose
44	chr12:64173200-64174200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr12:64173200-64174200	Active TSS	Fetal Stomach	stomach
46	chr12:64173200-64174400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:64173200-64174400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:64173200-64174400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:64173200-64174400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr12:64173200-64174400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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