Variant report

Variant	rs561183268
Chromosome Location	chr2:10443389-10443390
allele	G/T
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	chr2:10441852-10444651	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:10442695-10443482	Hela-S3	cervix:	n/a	n/a
3	ZNF143	chr2:10442515-10443615	GM12878	blood:	n/a	chr2:10443144-10443154
4	MXI1	chr2:10443166-10443471	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:10442386-10443406	PFSK-1	brain:	n/a	n/a
6	MYC	chr2:10442125-10444016	A549	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
7	MYC	chr2:10442606-10443609	K562	blood:	n/a	n/a
8	SIN3AK20	chr2:10442357-10444464	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr2:10442578-10444507	SK-N-SH	brain:	n/a	n/a
10	MYC	chr2:10443357-10443488	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr2:10441735-10443554	K562	blood:	n/a	n/a
12	POLR2A	chr2:10442796-10443710	H1-neurons	neurons:	n/a	n/a
13	HDAC2	chr2:10441303-10443996	HepG2	liver:	n/a	chr2:10443666-10443685
14	RAD21	chr2:10441925-10448398	SK-N-SH	brain:	n/a	chr2:10445901-10445913 chr2:10443150-10443164 chr2:10444235-10444248 chr2:10444579-10444593 chr2:10446784-10446791
15	POLR2A	chr2:10442226-10444098	MCF-7	breast:	n/a	n/a
16	POLR2A	chr2:10442679-10443502	ProgFib	skin:	n/a	n/a
17	SIN3A	chr2:10442650-10444494	H1-hESC	embryonic stem cell:	n/a	chr2:10443806-10443815 chr2:10443623-10443634 chr2:10442863-10442872 chr2:10443622-10443630
18	GABPA	chr2:10442980-10443495	H1-hESC	embryonic stem cell:	n/a	n/a
19	CBX3	chr2:10443238-10443655	K562	blood:	n/a	n/a
20	MAX	chr2:10440682-10444624	HepG2	liver:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
21	CREB1	chr2:10442443-10443528	A549	lung:	n/a	n/a
22	PAX5	chr2:10443158-10443527	GM12878	blood:	n/a	n/a
23	MXI1	chr2:10442433-10444519	GM12878	blood:	n/a	chr2:10443806-10443815 chr2:10443808-10443817
24	EP300	chr2:10442408-10443500	ECC-1	luminal epithelium:	n/a	chr2:10443430-10443443 chr2:10443150-10443166
25	POLR2A	chr2:10441906-10443455	Raji	blood:	n/a	n/a
26	MYBL2	chr2:10441021-10443695	HepG2	liver:	n/a	n/a
27	NR3C1	chr2:10442325-10443545	A549	lung:	n/a	n/a
28	POLR2A	chr2:10442503-10443410	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr2:10442591-10444503	Hela-S3	cervix:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
30	SIN3AK20	chr2:10443345-10443649	A549	lung:	n/a	n/a
31	BHLHE40	chr2:10443386-10443406	GM12878	blood:	n/a	n/a
32	MAZ	chr2:10442124-10445257	IMR90	lung:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
33	PAX5	chr2:10443073-10443488	GM12892	blood:	n/a	n/a
34	RFX5	chr2:10443383-10443395	HepG2	liver:	n/a	n/a
35	MXI1	chr2:10442556-10444511	HepG2	liver:	n/a	chr2:10443806-10443815 chr2:10443808-10443817
36	MAX	chr2:10443384-10444437	SK-N-SH	brain:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
37	ELF1	chr2:10442099-10443505	GM12878	blood:	n/a	chr2:10442857-10442869 chr2:10442434-10442446 chr2:10442632-10442645
38	MYC	chr2:10442308-10443894	K562	blood:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
39	MAX	chr2:10442305-10444096	ECC-1	luminal epithelium:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
40	NANOG	chr2:10443060-10443437	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr2:10443354-10443637	MCF-7	breast:	n/a	n/a
42	TAF1	chr2:10442122-10444001	HepG2	liver:	n/a	n/a
43	POLR2A	chr2:10441016-10443943	HepG2	liver:	n/a	n/a
44	RAD21	chr2:10442489-10443494	HepG2	liver:	n/a	chr2:10443150-10443164
45	YY1	chr2:10442893-10443409	K562	blood:	n/a	n/a
46	MAX	chr2:10442036-10444467	MCF-7	breast:	n/a	chr2:10443807-10443817 chr2:10443806-10443816 chr2:10443805-10443814 chr2:10443669-10443678 chr2:10443845-10443854 chr2:10443805-10443820
47	POLR2A	chr2:10442595-10443825	Hela-S3	cervix:	n/a	n/a
48	MAX	chr2:10443247-10443597	K562	blood:	n/a	n/a
49	POLR2A	chr2:10442476-10443391	U87	brain:	n/a	n/a
50	FOXP2	chr2:10442935-10443511	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10442668..10443459-chr2:198317615..198318346,2	HCT-116	colon:
2	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
3	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
4	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
5	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
6	chr2:10443037..10443588-chr8:26148654..26149361,2	Hela-S3	cervix:
7	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
8	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
9	chr2:10443130..10443758-chr22:47158091..47158932,2	Hela-S3	cervix:
10	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
11	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
12	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000206633	Chromatin interaction
ENSG00000206898	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000115520	Chromatin interaction
ENSG00000221914	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000260708	Chromatin interaction
ENSG00000054611	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3356298	chr2:10441526-10444374	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3367929	chr2:10441951-10444149	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv10180	chr2:10442471-10443799	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr2:10441600-10444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:10441800-10443800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:10441800-10445600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:10442000-10443600	Active TSS	Rectal Smooth Muscle	rectum
5	chr2:10442000-10444000	Active TSS	Liver	Liver
6	chr2:10442200-10443400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:10442200-10443400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:10442200-10443800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:10442200-10443800	Active TSS	Fetal Brain Female	brain
10	chr2:10442200-10444000	Active TSS	Brain Angular Gyrus	brain
11	chr2:10442200-10444200	Active TSS	Psoas Muscle	Psoas
12	chr2:10442200-10444400	Active TSS	Brain Substantia Nigra	brain
13	chr2:10442200-10445000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:10442200-10445000	Active TSS	Osteobl	bone
15	chr2:10442200-10446000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr2:10442200-10446000	Active TSS	HSMMtube	muscle
17	chr2:10442400-10443400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:10442400-10443400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr2:10442400-10443400	Active TSS	Adipose Nuclei	Adipose
20	chr2:10442400-10443400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:10442400-10443400	Active TSS	Pancreas	Pancrea
22	chr2:10442400-10443400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr2:10442400-10443400	Active TSS	K562	blood
24	chr2:10442400-10443600	Active TSS	Brain Hippocampus Middle	brain
25	chr2:10442400-10443800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:10442400-10443800	Active TSS	Right Ventricle	heart
27	chr2:10442400-10444000	Active TSS	Brain Anterior Caudate	brain
28	chr2:10442400-10444200	Active TSS	Thymus	Thymus
29	chr2:10442400-10444400	Active TSS	Colon Smooth Muscle	Colon
30	chr2:10442400-10444400	Active TSS	Esophagus	oesophagus
31	chr2:10442400-10444400	Active TSS	Ovary	ovary
32	chr2:10442400-10444400	Active TSS	A549	lung
33	chr2:10442400-10444600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:10442400-10444600	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:10442400-10444600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:10442400-10444600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:10442400-10444600	Active TSS	Aorta	Aorta
38	chr2:10442400-10444600	Active TSS	Duodenum Mucosa	Duodenum
39	chr2:10442400-10444600	Active TSS	Fetal Lung	lung
40	chr2:10442400-10444600	Active TSS	Small Intestine	intestine
41	chr2:10442400-10444600	Active TSS	Hela-S3	cervix
42	chr2:10442400-10444600	Active TSS	HSMM	muscle
43	chr2:10442400-10445000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:10442400-10445200	Active TSS	Left Ventricle	heart
45	chr2:10442400-10445600	Active TSS	Right Atrium	heart
46	chr2:10442600-10443400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:10442600-10443400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:10442600-10443400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10442600-10443400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:10442600-10443400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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