Variant report

Variant	rs536500576
Chromosome Location	chr2:10443060-10443061
allele	C/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	ETS1	chr2:10442904-10443250	K562	blood:	n/a	n/a
3	POLR2A	chr2:10442695-10443482	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr2:10442515-10443615	GM12878	blood:	n/a	chr2:10443144-10443154
5	PML	chr2:10442597-10443297	MCF-7	breast:	n/a	n/a
6	ZBTB7A	chr2:10442413-10443103	K562	blood:	n/a	n/a
7	POLR2A	chr2:10442386-10443406	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr2:10442912-10443290	HCT-116	colon:	n/a	n/a
9	POLR2A	chr2:10442766-10443325	H1-hESC	embryonic stem cell:	n/a	n/a
10	EBF1	chr2:10442897-10443179	GM12878	blood:	n/a	n/a
11	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
12	MYC	chr2:10442606-10443609	K562	blood:	n/a	n/a
13	POLR2A	chr2:10443001-10443234	K562	blood:	n/a	n/a
14	POLR2A	chr2:10442916-10443247	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:10442406-10443312	NB4	blood:	n/a	n/a
16	TAF1	chr2:10442840-10443171	SK-N-SH	brain:	n/a	n/a
17	SIN3AK20	chr2:10442357-10444464	MCF-7	breast:	n/a	n/a
18	TAF1	chr2:10442911-10443387	H1-neurons	neurons:	n/a	n/a
19	JUND	chr2:10442423-10443317	A549	lung:	n/a	n/a
20	MYC	chr2:10443036-10443099	MCF-7	breast:	n/a	n/a
21	SIN3AK20	chr2:10442578-10444507	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr2:10442365-10443189	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:10442419-10443271	K562	blood:	n/a	n/a
24	POLR2A	chr2:10441735-10443554	K562	blood:	n/a	n/a
25	POLR2A	chr2:10442796-10443710	H1-neurons	neurons:	n/a	n/a
26	RAD21	chr2:10442891-10443080	SK-N-SH_RA	brain:	n/a	n/a
27	POLR2A	chr2:10442473-10443286	HEK293	kidney:	n/a	n/a
28	EGR1	chr2:10442455-10443147	K562	blood:	n/a	chr2:10442644-10442658 chr2:10442633-10442642
29	POLR2A	chr2:10442450-10443381	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr2:10442398-10443255	K562	blood:	n/a	n/a
31	HDAC2	chr2:10441303-10443996	HepG2	liver:	n/a	chr2:10443666-10443685
32	POLR2A	chr2:10442358-10443324	GM10847	blood:	n/a	n/a
33	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
34	POLR2A	chr2:10442226-10444098	MCF-7	breast:	n/a	n/a
35	GABPA	chr2:10442337-10443178	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:10442679-10443502	ProgFib	skin:	n/a	n/a
37	SIN3A	chr2:10442650-10444494	H1-hESC	embryonic stem cell:	n/a	chr2:10443806-10443815 chr2:10443623-10443634 chr2:10442863-10442872 chr2:10443622-10443630
38	GABPA	chr2:10442980-10443495	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:10442372-10443254	GM15510	blood:	n/a	n/a
40	EGR1	chr2:10442407-10443137	K562	blood:	n/a	chr2:10442644-10442658 chr2:10442633-10442642
41	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
42	CTCF	chr2:10442452-10443064	MCF-7	breast:	n/a	chr2:10442477-10442485
43	ZBTB7A	chr2:10442419-10443080	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr2:10442377-10443208	K562	blood:	n/a	n/a
45	POLR2A	chr2:10442685-10443367	IMR90	lung:	n/a	n/a
46	POLR2A	chr2:10442908-10443312	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr2:10442482-10443385	U87	brain:	n/a	n/a
48	CREB1	chr2:10442443-10443528	A549	lung:	n/a	n/a
49	POLR2A	chr2:10442899-10443257	HepG2	liver:	n/a	n/a
50	MXI1	chr2:10442433-10444519	GM12878	blood:	n/a	chr2:10443806-10443815 chr2:10443808-10443817

No.	Distal block	Cell Line	Cell type
1	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
2	chr2:10442668..10443459-chr2:198317615..198318346,2	HCT-116	colon:
3	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
4	chr2:10442628..10443339-chrX:153362706..153363466,2	Hela-S3	cervix:
5	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
6	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
7	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
8	chr2:10443037..10443588-chr8:26148654..26149361,2	Hela-S3	cervix:
9	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
10	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
11	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
12	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
13	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000115758	Chromatin interaction
ENSG00000169057	Chromatin interaction
ENSG00000221914	Chromatin interaction
ENSG00000115520	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000206898	Chromatin interaction
ENSG00000272524	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:126 , 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	chr2:10442000-10443200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:10442000-10443200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:10442000-10443600	Active TSS	Rectal Smooth Muscle	rectum
7	chr2:10442000-10444000	Active TSS	Liver	Liver
8	chr2:10442200-10443200	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:10442200-10443200	Active TSS	HepG2	liver
10	chr2:10442200-10443400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:10442200-10443400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:10442200-10443800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:10442200-10443800	Active TSS	Fetal Brain Female	brain
14	chr2:10442200-10444000	Active TSS	Brain Angular Gyrus	brain
15	chr2:10442200-10444200	Active TSS	Psoas Muscle	Psoas
16	chr2:10442200-10444400	Active TSS	Brain Substantia Nigra	brain
17	chr2:10442200-10445000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:10442200-10445000	Active TSS	Osteobl	bone
19	chr2:10442200-10446000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:10442200-10446000	Active TSS	HSMMtube	muscle
21	chr2:10442400-10443200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:10442400-10443200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:10442400-10443200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:10442400-10443200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:10442400-10443200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr2:10442400-10443400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:10442400-10443400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:10442400-10443400	Active TSS	Adipose Nuclei	Adipose
29	chr2:10442400-10443400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:10442400-10443400	Active TSS	Pancreas	Pancrea
31	chr2:10442400-10443400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr2:10442400-10443400	Active TSS	K562	blood
33	chr2:10442400-10443600	Active TSS	Brain Hippocampus Middle	brain
34	chr2:10442400-10443800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr2:10442400-10443800	Active TSS	Right Ventricle	heart
36	chr2:10442400-10444000	Active TSS	Brain Anterior Caudate	brain
37	chr2:10442400-10444200	Active TSS	Thymus	Thymus
38	chr2:10442400-10444400	Active TSS	Colon Smooth Muscle	Colon
39	chr2:10442400-10444400	Active TSS	Esophagus	oesophagus
40	chr2:10442400-10444400	Active TSS	Ovary	ovary
41	chr2:10442400-10444400	Active TSS	A549	lung
42	chr2:10442400-10444600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:10442400-10444600	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr2:10442400-10444600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr2:10442400-10444600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:10442400-10444600	Active TSS	Aorta	Aorta
47	chr2:10442400-10444600	Active TSS	Duodenum Mucosa	Duodenum
48	chr2:10442400-10444600	Active TSS	Fetal Lung	lung
49	chr2:10442400-10444600	Active TSS	Small Intestine	intestine
50	chr2:10442400-10444600	Active TSS	Hela-S3	cervix

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