Variant report

Variant	rs577698409
Chromosome Location	chr2:10442731-10442732
allele	C/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	RAD21	chr2:10442552-10442894	A549	lung:	n/a	n/a
2	YY1	chr2:10442560-10442813	HCT-116	colon:	n/a	n/a
3	CTCF	chr2:10442600-10442750	GM12874	blood:	n/a	n/a
4	POLR2A	chr2:10441852-10444651	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:10442695-10443482	Hela-S3	cervix:	n/a	n/a
6	ZNF143	chr2:10442515-10443615	GM12878	blood:	n/a	chr2:10443144-10443154
7	CTCF	chr2:10442680-10442830	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr2:10442700-10442850	K562	blood:	n/a	n/a
9	PML	chr2:10442597-10443297	MCF-7	breast:	n/a	n/a
10	ZBTB7A	chr2:10442413-10443103	K562	blood:	n/a	n/a
11	POLR2A	chr2:10442386-10443406	PFSK-1	brain:	n/a	n/a
12	CTCF	chr2:10442680-10442830	AG09309	skin:	n/a	n/a
13	YY1	chr2:10442590-10442843	GM12892	blood:	n/a	n/a
14	CTCF	chr2:10442461-10442930	HepG2	liver:	n/a	chr2:10442477-10442485
15	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
16	MYC	chr2:10442606-10443609	K562	blood:	n/a	n/a
17	CTCF	chr2:10442660-10442810	AG04449	skin:	n/a	n/a
18	EP300	chr2:10442545-10442863	SK-N-SH_RA	brain:	n/a	n/a
19	FOXP2	chr2:10442393-10442912	PFSK-1	brain:	n/a	n/a
20	TCF12	chr2:10442450-10442908	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:10442406-10443312	NB4	blood:	n/a	n/a
22	CTCF	chr2:10442578-10442946	SK-N-SH_RA	brain:	n/a	n/a
23	SIN3AK20	chr2:10442357-10444464	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:10442554-10442797	T-47D	breast:	n/a	n/a
25	YY1	chr2:10442579-10442845	GM12878	blood:	n/a	n/a
26	JUND	chr2:10442423-10443317	A549	lung:	n/a	n/a
27	SIN3AK20	chr2:10442578-10444507	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:10442365-10443189	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:10442419-10443271	K562	blood:	n/a	n/a
30	CTCF	chr2:10442660-10442810	HUVEC	blood vessel:	n/a	n/a
31	ELF1	chr2:10442452-10442869	HepG2	liver:	n/a	chr2:10442857-10442869 chr2:10442632-10442645
32	POLR2A	chr2:10441735-10443554	K562	blood:	n/a	n/a
33	USF1	chr2:10442592-10442830	K562	blood:	n/a	n/a
34	CTCF	chr2:10442680-10442830	GM12872	blood:	n/a	n/a
35	CTCF	chr2:10442640-10442790	HEK293	kidney:	n/a	n/a
36	POLR2A	chr2:10442473-10443286	HEK293	kidney:	n/a	n/a
37	EGR1	chr2:10442455-10443147	K562	blood:	n/a	chr2:10442644-10442658 chr2:10442633-10442642
38	CTCF	chr2:10442700-10442850	HRE	kidney:	n/a	n/a
39	CTCF	chr2:10442603-10442875	MCF-7	breast:	n/a	n/a
40	RAD21	chr2:10442571-10442863	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr2:10442660-10442810	GM12867	blood:	n/a	n/a
42	POLR2A	chr2:10442450-10443381	SK-N-MC	brain:	n/a	n/a
43	POLR2A	chr2:10442398-10443255	K562	blood:	n/a	n/a
44	CTCF	chr2:10442640-10442790	HMEC	breast:	n/a	n/a
45	HDAC2	chr2:10441303-10443996	HepG2	liver:	n/a	chr2:10443666-10443685
46	SPI1	chr2:10442410-10442897	HL-60	blood:	n/a	chr2:10442606-10442619
47	ZC3H11A	chr2:10442382-10442845	K562	blood:	n/a	n/a
48	POLR2A	chr2:10442358-10443324	GM10847	blood:	n/a	n/a
49	CTCF	chr2:10442680-10442830	HCPEpiC	choroid plexus:	n/a	n/a
50	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

No.	Distal block	Cell Line	Cell type
1	chr2:10261055..10262657-chr2:10441629..10443172,2	K562	blood:
2	chr2:10440329..10443014-chr2:10447614..10450153,3	K562	blood:
3	chr2:10442668..10443459-chr2:198317615..198318346,2	HCT-116	colon:
4	chr2:10259191..10262555-chr2:10441232..10444497,4	K562	blood:
5	chr2:10442628..10443339-chrX:153362706..153363466,2	Hela-S3	cervix:
6	chr2:10417267..10421526-chr2:10440124..10444517,8	K562	blood:
7	chr11:108337866..108338745-chr2:10442140..10442929,2	Hela-S3	cervix:
8	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:
9	chr2:10259183..10262149-chr2:10441411..10444855,4	MCF-7	breast:
10	chr2:10441623..10444200-chr2:10586906..10588748,2	K562	blood:
11	chr2:10441262..10442820-chr2:10525916..10527574,2	MCF-7	breast:
12	chr2:10261047..10264754-chr2:10441936..10445688,4	MCF-7	breast:
13	chr2:10417102..10422487-chr2:10439870..10443532,9	K562	blood:
14	chr2:10441623..10444177-chr2:10587166..10588748,2	K562	blood:
15	chr2:10328421..10328930-chr2:10442179..10443004,2	MCF-7	breast:
16	chr2:10265405..10268289-chr2:10440877..10444021,3	K562	blood:
17	chr2:10183111..10185258-chr2:10441327..10442852,2	K562	blood:

Variant related genes	Relation type
HPCAL1	TF binding region
ENSG00000206633	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000166323	Chromatin interaction
ENSG00000115520	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000264030	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000169057	Chromatin interaction
ENSG00000206898	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10441600-10442800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:10441600-10444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:10441800-10443800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:10441800-10445600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:10442000-10442800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:10442000-10442800	Enhancers	Fetal Brain Male	brain
7	chr2:10442000-10443200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:10442000-10443200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:10442000-10443600	Active TSS	Rectal Smooth Muscle	rectum
10	chr2:10442000-10444000	Active TSS	Liver	Liver
11	chr2:10442200-10442800	Enhancers	NHDF-Ad	bronchial
12	chr2:10442200-10443200	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:10442200-10443200	Active TSS	HepG2	liver
14	chr2:10442200-10443400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:10442200-10443400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:10442200-10443800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:10442200-10443800	Active TSS	Fetal Brain Female	brain
18	chr2:10442200-10444000	Active TSS	Brain Angular Gyrus	brain
19	chr2:10442200-10444200	Active TSS	Psoas Muscle	Psoas
20	chr2:10442200-10444400	Active TSS	Brain Substantia Nigra	brain
21	chr2:10442200-10445000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:10442200-10445000	Active TSS	Osteobl	bone
23	chr2:10442200-10446000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:10442200-10446000	Active TSS	HSMMtube	muscle
25	chr2:10442400-10442800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:10442400-10442800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:10442400-10443000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:10442400-10443000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:10442400-10443000	Weak transcription	Fetal Heart	heart
30	chr2:10442400-10443000	Weak transcription	Lung	lung
31	chr2:10442400-10443200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr2:10442400-10443200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:10442400-10443200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:10442400-10443200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:10442400-10443200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:10442400-10443400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:10442400-10443400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr2:10442400-10443400	Active TSS	Adipose Nuclei	Adipose
39	chr2:10442400-10443400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:10442400-10443400	Active TSS	Pancreas	Pancrea
41	chr2:10442400-10443400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr2:10442400-10443400	Active TSS	K562	blood
43	chr2:10442400-10443600	Active TSS	Brain Hippocampus Middle	brain
44	chr2:10442400-10443800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:10442400-10443800	Active TSS	Right Ventricle	heart
46	chr2:10442400-10444000	Active TSS	Brain Anterior Caudate	brain
47	chr2:10442400-10444200	Active TSS	Thymus	Thymus
48	chr2:10442400-10444400	Active TSS	Colon Smooth Muscle	Colon
49	chr2:10442400-10444400	Active TSS	Esophagus	oesophagus
50	chr2:10442400-10444400	Active TSS	Ovary	ovary

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