Variant report

Variant	rs2700500
Chromosome Location	chr12:104458474-104458475
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	chr12:104457850-104458606	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	ZBTB7A	chr12:104458401-104458837	K562	blood:	n/a	n/a
4	ZEB1	chr12:104458107-104458577	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr12:104457435-104458894	MCF-7	breast:	n/a	n/a
6	TBL1XR1	chr12:104458079-104458562	K562	blood:	n/a	n/a
7	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
8	TAF1	chr12:104457980-104458782	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:104458002-104458640	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr12:104458171-104458478	GM12891	blood:	n/a	n/a
11	POLR2A	chr12:104457657-104458771	GM12878	blood:	n/a	n/a
12	ETS1	chr12:104458065-104458785	K562	blood:	n/a	chr12:104458617-104458628 chr12:104458546-104458557 chr12:104458614-104458625 chr12:104458145-104458156 chr12:104458168-104458181
13	MYC	chr12:104457530-104458711	NB4	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
14	SIN3AK20	chr12:104457677-104458851	MCF-7	breast:	n/a	n/a
15	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
16	BCL3	chr12:104457806-104458541	A549	lung:	n/a	chr12:104458222-104458235 chr12:104458508-104458517 chr12:104458505-104458514 chr12:104458316-104458329 chr12:104458321-104458330
17	CREB1	chr12:104457862-104458811	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:104458003-104458524	HepG2	liver:	n/a	n/a
19	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
20	JUN	chr12:104457437-104459338	K562	blood:	n/a	chr12:104458615-104458624
21	SIN3AK20	chr12:104458305-104458700	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr12:104458074-104458478	SK-N-SH	brain:	n/a	n/a
23	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
24	MXI1	chr12:104457504-104459190	HepG2	liver:	n/a	chr12:104458234-104458243
25	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
26	CHD2	chr12:104457652-104458774	Hela-S3	cervix:	n/a	n/a
27	TCF12	chr12:104458011-104458647	A549	lung:	n/a	n/a
28	ETS1	chr12:104458010-104458922	K562	blood:	n/a	chr12:104458617-104458628 chr12:104458546-104458557 chr12:104458614-104458625 chr12:104458829-104458838 chr12:104458145-104458156 chr12:104458168-104458181
29	HCFC1	chr12:104457328-104459464	Hela-S3	cervix:	n/a	n/a
30	ATF2	chr12:104457648-104458636	GM12878	blood:	n/a	n/a
31	MAX	chr12:104457501-104458884	HCT-116	colon:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
32	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
33	POLR2A	chr12:104457660-104458795	GM15510	blood:	n/a	n/a
34	MAX	chr12:104457769-104458692	K562	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
35	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
36	POU2F2	chr12:104457818-104458510	GM12878	blood:	n/a	chr12:104458144-104458156
37	POLR2A	chr12:104457997-104458552	A549	lung:	n/a	n/a
38	SMC3	chr12:104457519-104458720	Hela-S3	cervix:	n/a	chr12:104458528-104458538
39	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
40	PAX5	chr12:104458063-104458534	GM12878	blood:	n/a	n/a
41	MXI1	chr12:104457671-104458949	GM12878	blood:	n/a	chr12:104458234-104458243
42	POLR2A	chr12:104457650-104458693	U87	brain:	n/a	n/a
43	MAX	chr12:104457470-104458752	Hela-S3	cervix:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
44	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
45	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
46	TAF1	chr12:104458063-104458639	GM12878	blood:	n/a	n/a
47	TRIM28	chr12:104458081-104458621	K562	blood:	n/a	n/a
48	HEY1	chr12:104458153-104458537	K562	blood:	n/a	chr12:104458293-104458308 chr12:104458506-104458521
49	POLR2A	chr12:104458038-104458560	HCT-116	colon:	n/a	n/a
50	EBF1	chr12:104457907-104458744	GM12878	blood:	n/a	chr12:104458272-104458282 chr12:104458273-104458282 chr12:104458273-104458282 chr12:104458271-104458282

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
GLT8D2	TF binding region
HCFC2	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000120837	Chromatin interaction

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

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

rs_ID	r²[population]
rs10219726	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12367528	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs12422501	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs2450154	1.00[CEU][hapmap]
rs4438115	1.00[CEU][hapmap]
rs7133444	1.00[CHB][hapmap]

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	chr12:104457400-104458600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:104457400-104458800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:104457400-104458800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:104457400-104458800	Active TSS	Hela-S3	cervix
10	chr12:104457400-104459000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:104457400-104459000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104457400-104459000	Active TSS	Brain Anterior Caudate	brain
13	chr12:104457400-104459000	Active TSS	Fetal Lung	lung
14	chr12:104457400-104459200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:104457400-104459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:104457400-104459200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:104457400-104459200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:104457400-104459200	Active TSS	Brain Angular Gyrus	brain
19	chr12:104457400-104459200	Active TSS	Esophagus	oesophagus
20	chr12:104457400-104459400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:104457400-104459400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:104457400-104459400	Active TSS	Aorta	Aorta
23	chr12:104457400-104459400	Active TSS	Fetal Kidney	kidney
24	chr12:104457400-104459400	Active TSS	A549	lung
25	chr12:104457400-104459600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104457400-104459600	Active TSS	Left Ventricle	heart
27	chr12:104457400-104459600	Active TSS	Psoas Muscle	Psoas
28	chr12:104457400-104459800	Active TSS	NHDF-Ad	bronchial
29	chr12:104457400-104460000	Active TSS	Right Atrium	heart
30	chr12:104457400-104460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:104457600-104458600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:104457600-104458800	Active TSS	Primary B cells from peripheral blood	blood
33	chr12:104457600-104458800	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr12:104457600-104458800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:104457600-104458800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:104457600-104458800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:104457600-104458800	Active TSS	Fetal Thymus	thymus
38	chr12:104457600-104458800	Active TSS	Thymus	Thymus
39	chr12:104457600-104459000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr12:104457600-104459000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:104457600-104459000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:104457600-104459000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:104457600-104459000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:104457600-104459000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:104457600-104459000	Active TSS	Duodenum Mucosa	Duodenum
46	chr12:104457600-104459000	Active TSS	Fetal Intestine Small	intestine
47	chr12:104457600-104459000	Active TSS	Lung	lung
48	chr12:104457600-104459000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:104457600-104459000	Active TSS	Spleen	Spleen
50	chr12:104457600-104459000	Active TSS	HepG2	liver

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