Variant report

Variant	rs61937639
Chromosome Location	chr12:104458007-104458008
allele	A/G
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	chr12:104457850-104458606	GM10847	blood:	n/a	n/a
2	EP300	chr12:104457651-104458884	SK-N-SH	brain:	n/a	chr12:104458633-104458649 chr12:104458217-104458233 chr12:104457843-104457859 chr12:104458816-104458829 chr12:104458218-104458234 chr12:104458222-104458231 chr12:104458616-104458625 chr12:104458566-104458575 chr12:104458509-104458518
3	SIN3AK20	chr12:104457435-104458894	MCF-7	breast:	n/a	n/a
4	YY1	chr12:104458003-104458911	HepG2	liver:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
5	TAF1	chr12:104457980-104458782	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:104458002-104458640	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr12:104457657-104458771	GM12878	blood:	n/a	n/a
8	MYC	chr12:104457530-104458711	NB4	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
9	SIN3AK20	chr12:104457677-104458851	MCF-7	breast:	n/a	n/a
10	YY1	chr12:104457779-104458696	SK-N-SH	brain:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
11	BCL3	chr12:104457806-104458541	A549	lung:	n/a	chr12:104458222-104458235 chr12:104458508-104458517 chr12:104458505-104458514 chr12:104458316-104458329 chr12:104458321-104458330
12	CREB1	chr12:104457862-104458811	GM12878	blood:	n/a	n/a
13	TCF7L2	chr12:104457870-104458450	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:104458003-104458524	HepG2	liver:	n/a	n/a
15	MAX	chr12:104457618-104458786	H1-hESC	embryonic stem cell:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
16	EGR1	chr12:104457813-104458385	K562	blood:	n/a	chr12:104457903-104457913 chr12:104458145-104458155 chr12:104458265-104458275 chr12:104457970-104457983 chr12:104458294-104458308 chr12:104458142-104458155 chr12:104458321-104458334 chr12:104458147-104458157 chr12:104457967-104457981
17	JUN	chr12:104457437-104459338	K562	blood:	n/a	chr12:104458615-104458624
18	SP1	chr12:104457901-104458625	GM12878	blood:	n/a	chr12:104458316-104458330 chr12:104458148-104458157 chr12:104458321-104458330 chr12:104458544-104458558 chr12:104458263-104458275 chr12:104458319-104458331 chr12:104458146-104458158 chr12:104458147-104458156 chr12:104458319-104458331 chr12:104458148-104458157 chr12:104458147-104458157 chr12:104458265-104458274 chr12:104458147-104458157 chr12:104458320-104458329 chr12:104458143-104458157 chr12:104458548-104458557 chr12:104458547-104458559 chr12:104458146-104458158
19	MXI1	chr12:104457504-104459190	HepG2	liver:	n/a	chr12:104458234-104458243
20	YY1	chr12:104457752-104458960	GM12878	blood:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
21	CHD2	chr12:104457652-104458774	Hela-S3	cervix:	n/a	n/a
22	HCFC1	chr12:104457328-104459464	Hela-S3	cervix:	n/a	n/a
23	ATF2	chr12:104457648-104458636	GM12878	blood:	n/a	n/a
24	MAX	chr12:104457501-104458884	HCT-116	colon:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
25	USF1	chr12:104457716-104458473	A549	lung:	n/a	chr12:104458218-104458234 chr12:104458217-104458233 chr12:104458232-104458243 chr12:104457830-104457846
26	YY1	chr12:104457937-104458736	ECC-1	luminal epithelium:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
27	POLR2A	chr12:104457660-104458795	GM15510	blood:	n/a	n/a
28	MAX	chr12:104457769-104458692	K562	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
29	EP300	chr12:104457732-104458881	ECC-1	luminal epithelium:	n/a	chr12:104458633-104458649 chr12:104458217-104458233 chr12:104457843-104457859 chr12:104458816-104458829 chr12:104458218-104458234 chr12:104458222-104458231 chr12:104458616-104458625 chr12:104458566-104458575 chr12:104458509-104458518
30	POU2F2	chr12:104457818-104458510	GM12878	blood:	n/a	chr12:104458144-104458156
31	POLR2A	chr12:104457997-104458552	A549	lung:	n/a	n/a
32	SMC3	chr12:104457519-104458720	Hela-S3	cervix:	n/a	chr12:104458528-104458538
33	MAX	chr12:104457721-104458771	H1-hESC	embryonic stem cell:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
34	MXI1	chr12:104457671-104458949	GM12878	blood:	n/a	chr12:104458234-104458243
35	POLR2A	chr12:104457650-104458693	U87	brain:	n/a	n/a
36	MAX	chr12:104457470-104458752	Hela-S3	cervix:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
37	YY1	chr12:104457957-104458723	H1-hESC	embryonic stem cell:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
38	YY1	chr12:104457993-104458777	GM12892	blood:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
39	CTCF	chr12:104457940-104458090	GM12865	blood:	n/a	n/a
40	EBF1	chr12:104457907-104458744	GM12878	blood:	n/a	chr12:104458272-104458282 chr12:104458273-104458282 chr12:104458273-104458282 chr12:104458271-104458282
41	IRF4	chr12:104457801-104458486	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:104457675-104458782	K562	blood:	n/a	n/a
43	SP4	chr12:104457943-104458442	H1-hESC	embryonic stem cell:	n/a	chr12:104458142-104458158 chr12:104458144-104458160
44	POLR2A	chr12:104457937-104458524	SK-N-MC	brain:	n/a	n/a
45	ELK1	chr12:104457921-104458505	GM12878	blood:	n/a	n/a
46	YY1	chr12:104457757-104459004	SK-N-SH	brain:	n/a	chr12:104458296-104458307 chr12:104458507-104458516 chr12:104458564-104458578 chr12:104458220-104458234 chr12:104458221-104458235 chr12:104458565-104458579 chr12:104458217-104458231 chr12:104458524-104458538 chr12:104458147-104458156 chr12:104458619-104458628 chr12:104458548-104458559 chr12:104458564-104458573
47	POLR2A	chr12:104457715-104458712	HUVEC	blood vessel:	n/a	n/a
48	MAX	chr12:104457498-104458963	NB4	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
49	MAX	chr12:104457682-104458662	HepG2	liver:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
50	MXI1	chr12:104457586-104458788	Hela-S3	cervix:	n/a	chr12:104458234-104458243

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104458006-104458056	BJ	skin:	n/a
2	chr12:104458006-104458056	ovcar-3	ovarian:	n/a
3	chr12:104458006-104458056	PFSK-1	brain:	n/a
4	chr12:104458006-104458056	PrEC	prostate:	n/a
5	chr12:104458006-104458056	H1-hESC	embryonic stem cell:	embryo
6	chr12:104458006-104458056	NH-A	brain:	n/a
7	chr12:104458006-104458056	HCT-116	colon:	n/a
8	chr12:104458006-104458056	MCF10A-Er-Src	breast:	n/a
9	chr12:104458006-104458056	AG04450	lung:	fetal
10	chr12:104458006-104458056	HRPEpiC	eye:	n/a
11	chr12:104458006-104458056	K562	blood:	n/a
12	chr12:104458006-104458056	HEK293	kidney:	embryo
13	chr12:104458006-104458056	HRCEpiC	kidney:	n/a
14	chr12:104458006-104458056	GM06990	blood:	n/a
15	chr12:104458006-104458056	HUVEC	blood vessel:	n/a
16	chr12:104458006-104458056	MCF-7	breast:	n/a
17	chr12:104458006-104458056	HL-60	blood:	n/a
18	chr12:104458006-104458056	LNCaP	prostate:	n/a
19	chr12:104458006-104458056	HRE	kidney:	n/a
20	chr12:104458006-104458056	BE2_C	brain:	n/a
21	chr12:104458006-104458056	AG09319	gingival:	n/a
22	chr12:104458006-104458056	NT2-D1	testis:	n/a
23	chr12:104458006-104458056	CMK	blood:	n/a
24	chr12:104458006-104458056	HAEpiC	amniotic membrane:	n/a
25	chr12:104458006-104458056	IMR90	lung:	fetal
26	chr12:104458006-104458056	Hepatocyte	liver:	n/a
27	chr12:104458006-104458056	U87	brain:	n/a
28	chr12:104458006-104458056	GM19239	blood:	n/a
29	chr12:104458006-104458056	HCPEpiC	choroid plexus:	n/a
30	chr12:104458006-104458056	AG09309	skin:	n/a
31	chr12:104458006-104458056	HEEpiC	esophagus:	n/a
32	chr12:104458006-104458056	HIPEpiC	eye:	n/a
33	chr12:104458006-104458056	HCM	heart:	n/a
34	chr12:104458006-104458056	NHDF-neo	bronchial:	n/a
35	chr12:104458006-104458056	T-47D	breast:	n/a
36	chr12:104458006-104458056	GM12878	blood:	n/a
37	chr12:104458006-104458056	GM12892	blood:	n/a
38	chr12:104458006-104458056	AG10803	skin:	n/a
39	chr12:104458006-104458056	Hela-S3	cervix:	n/a
40	chr12:104458006-104458056	SKMC	muscle:	n/a
41	chr12:104458006-104458056	GM12891	blood:	n/a
42	chr12:104458006-104458056	ProgFib	skin:	n/a
43	chr12:104458006-104458056	AG04449	skin:	fetal
44	chr12:104458006-104458056	SK-N-SH_RA	brain:	n/a
45	chr12:104458006-104458056	Caco-2	colon:	n/a
46	chr12:104458006-104458056	SAEC	small airway:	n/a
47	chr12:104458006-104458056	HNPCEpiC	eye:	n/a
48	chr12:104458006-104458056	NB4	blood:	n/a
49	chr12:104458006-104458056	HCF	heart:	n/a
50	chr12:104458006-104458056	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
2	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
3	chr12:104440302..104444353-chr12:104456677..104458918,3	K562	blood:
4	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
5	chr12:104441740..104444353-chr12:104456837..104458918,2	K562	blood:

Variant related genes	Relation type
HCFC2	TF binding region
GLT8D2	TF binding region
GLT8D2	CpG island
HCFC2	CpG island
ENSG00000120820	Chromatin interaction
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10507174	0.97[ASN][1000 genomes]
rs10507175	0.97[ASN][1000 genomes]
rs11111898	1.00[ASN][1000 genomes]
rs12422505	0.97[ASN][1000 genomes]
rs12423684	1.00[ASN][1000 genomes]
rs12423844	0.97[ASN][1000 genomes]
rs12424943	1.00[ASN][1000 genomes]
rs12426862	0.97[ASN][1000 genomes]
rs12427339	0.97[ASN][1000 genomes]
rs12579268	0.88[ASN][1000 genomes]
rs12582966	1.00[ASN][1000 genomes]
rs12825521	0.97[ASN][1000 genomes]
rs17192854	1.00[ASN][1000 genomes]
rs17805748	1.00[ASN][1000 genomes]
rs17805766	1.00[ASN][1000 genomes]
rs35142441	0.97[ASN][1000 genomes]
rs3812800	0.88[ASN][1000 genomes]
rs3850022	0.85[ASN][1000 genomes]
rs4131750	0.88[ASN][1000 genomes]
rs4131752	0.88[ASN][1000 genomes]
rs4340124	0.97[ASN][1000 genomes]
rs4964219	0.87[ASN][1000 genomes]
rs59079741	0.97[ASN][1000 genomes]
rs59644448	1.00[ASN][1000 genomes]
rs61647968	0.85[ASN][1000 genomes]
rs61937641	0.98[ASN][1000 genomes]
rs61937642	0.98[ASN][1000 genomes]
rs61939180	0.85[ASN][1000 genomes]
rs61939183	1.00[ASN][1000 genomes]
rs61939188	0.98[ASN][1000 genomes]
rs61939190	0.97[ASN][1000 genomes]
rs61939192	0.97[ASN][1000 genomes]
rs61939195	0.88[ASN][1000 genomes]
rs61939196	0.88[ASN][1000 genomes]
rs61939198	0.88[ASN][1000 genomes]
rs61939199	0.87[ASN][1000 genomes]
rs61939200	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS 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 miRNA target site	30 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	chr12:104457000-104459600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:104457000-104459600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:104457200-104459400	Active TSS	NHLF	lung
4	chr12:104457200-104459600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:104457200-104460000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:104457400-104458200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr12:104457400-104458200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:104457400-104458200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr12:104457400-104458200	Flanking Active TSS	Liver	Liver
10	chr12:104457400-104458200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr12:104457400-104458400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:104457400-104458600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:104457400-104458800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:104457400-104458800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:104457400-104458800	Active TSS	Hela-S3	cervix
16	chr12:104457400-104459000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:104457400-104459000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:104457400-104459000	Active TSS	Brain Anterior Caudate	brain
19	chr12:104457400-104459000	Active TSS	Fetal Lung	lung
20	chr12:104457400-104459200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr12:104457400-104459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:104457400-104459200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:104457400-104459200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:104457400-104459200	Active TSS	Brain Angular Gyrus	brain
25	chr12:104457400-104459200	Active TSS	Esophagus	oesophagus
26	chr12:104457400-104459400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:104457400-104459400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:104457400-104459400	Active TSS	Aorta	Aorta
29	chr12:104457400-104459400	Active TSS	Fetal Kidney	kidney
30	chr12:104457400-104459400	Active TSS	A549	lung
31	chr12:104457400-104459600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:104457400-104459600	Active TSS	Left Ventricle	heart
33	chr12:104457400-104459600	Active TSS	Psoas Muscle	Psoas
34	chr12:104457400-104459800	Active TSS	NHDF-Ad	bronchial
35	chr12:104457400-104460000	Active TSS	Right Atrium	heart
36	chr12:104457400-104460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:104457600-104458200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr12:104457600-104458400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:104457600-104458600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:104457600-104458800	Active TSS	Primary B cells from peripheral blood	blood
41	chr12:104457600-104458800	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:104457600-104458800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:104457600-104458800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104457600-104458800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:104457600-104458800	Active TSS	Fetal Thymus	thymus
46	chr12:104457600-104458800	Active TSS	Thymus	Thymus
47	chr12:104457600-104459000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr12:104457600-104459000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:104457600-104459000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:104457600-104459000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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