Variant report

Variant	rs4851314
Chromosome Location	chr2:101033756-101033757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:101033427-101034328	GM15510	blood:	n/a	n/a
2	HEY1	chr2:101033633-101034382	HepG2	liver:	n/a	chr2:101034196-101034211 chr2:101034093-101034108
3	IRF1	chr2:101033433-101034475	K562	blood:	n/a	chr2:101034365-101034385 chr2:101034367-101034378
4	MAX	chr2:101033042-101034422	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:101033639-101034318	K562	blood:	n/a	n/a
6	CTCF	chr2:101033720-101033870	GM12865	blood:	n/a	n/a
7	POLR2A	chr2:101033740-101034265	IMR90	lung:	n/a	n/a
8	POLR2A	chr2:101033275-101034403	K562	blood:	n/a	n/a
9	CTCF	chr2:101033720-101033870	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr2:101033514-101034311	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr2:101033676-101034346	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr2:101033683-101034158	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr2:101033636-101034360	K562	blood:	n/a	n/a
14	HDAC2	chr2:101033633-101034380	HepG2	liver:	n/a	chr2:101034331-101034345 chr2:101034330-101034344 chr2:101034357-101034371
15	POLR2A	chr2:101033449-101034296	HEK293	kidney:	n/a	n/a
16	TAF1	chr2:101033708-101034244	HepG2	liver:	n/a	n/a
17	MAX	chr2:101033093-101033951	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr2:101032980-101034331	H1-neurons	neurons:	n/a	n/a
19	MAX	chr2:101033155-101033794	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:101033398-101033814	A549	lung:	n/a	chr2:101033641-101033652
21	POLR2A	chr2:101033733-101034186	U87	brain:	n/a	n/a
22	POLR2A	chr2:101033659-101034289	GM10847	blood:	n/a	n/a
23	HMGN3	chr2:101033438-101034306	K562	blood:	n/a	n/a
24	POLR2A	chr2:101033667-101034254	HUVEC	blood vessel:	n/a	n/a
25	REST	chr2:101033107-101034243	H1-neurons	neurons:	n/a	chr2:101033777-101033790
26	EGR1	chr2:101033720-101034012	K562	blood:	n/a	n/a
27	EBF1	chr2:101033648-101033969	GM12878	blood:	n/a	n/a
28	MAX	chr2:101033706-101034272	SK-N-SH	brain:	n/a	n/a
29	MAZ	chr2:101033033-101034400	IMR90	lung:	n/a	n/a
30	TAF1	chr2:101033621-101034254	K562	blood:	n/a	n/a
31	POLR2A	chr2:101033747-101034313	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3AK20	chr2:101033545-101034301	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr2:101033042-101034304	H1-neurons	neurons:	n/a	n/a
34	GABPA	chr2:101033662-101034247	K562	blood:	n/a	chr2:101033813-101033822
35	JUND	chr2:101033636-101034149	K562	blood:	n/a	n/a
36	CEBPB	chr2:101033310-101033846	K562	blood:	n/a	chr2:101033641-101033652
37	POLR2A	chr2:101033557-101034394	K562	blood:	n/a	n/a
38	POLR2A	chr2:101033397-101034394	SK-N-MC	brain:	n/a	n/a
39	CEBPB	chr2:101033484-101033815	A549	lung:	n/a	chr2:101033641-101033652
40	HCFC1	chr2:101033493-101034258	K562	blood:	n/a	n/a
41	E2F6	chr2:101033207-101034035	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr2:101033462-101033833	HepG2	liver:	n/a	chr2:101033641-101033652
43	POLR2A	chr2:101033497-101034399	GM12892	blood:	n/a	n/a
44	ELF1	chr2:101033573-101034327	GM12878	blood:	n/a	n/a
45	ZBTB7A	chr2:101033472-101034431	ECC-1	luminal epithelium:	n/a	n/a
46	BACH1	chr2:101033612-101034385	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr2:101033641-101034210	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr2:101033042-101034375	HepG2	liver:	n/a	n/a
49	CCNT2	chr2:101033708-101034334	K562	blood:	n/a	n/a
50	MAX	chr2:101033073-101034266	NB4	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:101033747-101033797	AG09309	skin:	n/a
2	chr2:101033747-101033797	HL-60	blood:	n/a
3	chr2:101033747-101033797	PrEC	prostate:	n/a
4	chr2:101033747-101033797	MCF10A-Er-Src	breast:	n/a
5	chr2:101033747-101033797	ProgFib	skin:	n/a
6	chr2:101033747-101033797	HCF	heart:	n/a
7	chr2:101033747-101033797	HepG2	liver:	n/a
8	chr2:101033747-101033797	BE2_C	brain:	n/a
9	chr2:101033747-101033797	HAEpiC	amniotic membrane:	n/a
10	chr2:101033747-101033797	HEEpiC	esophagus:	n/a
11	chr2:101033747-101033797	SAEC	small airway:	n/a
12	chr2:101033747-101033797	NB4	blood:	n/a
13	chr2:101033747-101033797	AG04450	lung:	fetal
14	chr2:101033747-101033797	ovcar-3	ovarian:	n/a
15	chr2:101033747-101033797	T-47D	breast:	n/a
16	chr2:101033747-101033797	K562	blood:	n/a
17	chr2:101033747-101033797	MCF-7	breast:	n/a
18	chr2:101033747-101033797	AG10803	skin:	n/a
19	chr2:101033747-101033797	AoSMC	blood vessel:	n/a
20	chr2:101033747-101033797	RPTEC	kidney:	n/a
21	chr2:101033747-101033797	HUVEC	blood vessel:	n/a
22	chr2:101033747-101033797	HRCEpiC	kidney:	n/a
23	chr2:101033747-101033797	LNCaP	prostate:	n/a
24	chr2:101033747-101033797	SK-N-SH	brain:	n/a
25	chr2:101033747-101033797	GM12878	blood:	n/a
26	chr2:101033747-101033797	HCPEpiC	choroid plexus:	n/a
27	chr2:101033747-101033797	NT2-D1	testis:	n/a
28	chr2:101033747-101033797	U87	brain:	n/a
29	chr2:101033747-101033797	NH-A	brain:	n/a
30	chr2:101033747-101033797	Caco-2	colon:	n/a
31	chr2:101033747-101033797	HRPEpiC	eye:	n/a
32	chr2:101033747-101033797	HNPCEpiC	eye:	n/a
33	chr2:101033747-101033797	PFSK-1	brain:	n/a
34	chr2:101033747-101033797	GM12891	blood:	n/a
35	chr2:101033747-101033797	A549	lung:	n/a
36	chr2:101033747-101033797	BJ	skin:	n/a
37	chr2:101033747-101033797	HRE	kidney:	n/a
38	chr2:101033747-101033797	AG09319	gingival:	n/a
39	chr2:101033747-101033797	HMEC	breast:	n/a
40	chr2:101033747-101033797	HCT-116	colon:	n/a
41	chr2:101033747-101033797	PANC-1	pancreas:	n/a
42	chr2:101033747-101033797	CMK	blood:	n/a
43	chr2:101033747-101033797	Jurkat	blood:	n/a
44	chr2:101033747-101033797	HEK293	kidney:	embryo
45	chr2:101033747-101033797	NHBE	bronchial:	n/a
46	chr2:101033747-101033797	SK-N-MC	brain:	n/a
47	chr2:101033747-101033797	AG04449	skin:	fetal
48	chr2:101033747-101033797	Hela-S3	cervix:	n/a
49	chr2:101033747-101033797	GM19239	blood:	n/a
50	chr2:101033747-101033797	GM12892	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:101032545..101035627-chr2:101179557..101182939,4	K562	blood:
2	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:
3	chr2:101033038..101035627-chr2:101178228..101182939,5	K562	blood:
4	chr2:100936794..100939483-chr2:101033248..101035645,2	K562	blood:

No data

Variant related genes	Relation type
CHST10	TF binding region
CHST10	CpG island
ENSG00000115539	Chromatin interaction
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2309814	0.80[CEU][hapmap]
rs2971014	1.00[CHD][hapmap]
rs2971015	1.00[CHD][hapmap]
rs4850932	0.80[CEU][hapmap];0.82[TSI][hapmap]
rs764829	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv829583	chr2:101031032-101038750	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:101032200-101034400	Active TSS	Brain Angular Gyrus	brain
2	chr2:101032200-101034600	Active TSS	Ovary	ovary
3	chr2:101032400-101034400	Active TSS	GM12878-XiMat	blood
4	chr2:101032400-101034400	Active TSS	K562	blood
5	chr2:101032600-101033800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:101032600-101033800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr2:101032600-101034400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:101032600-101034600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:101032600-101034600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:101032600-101034600	Active TSS	Brain Cingulate Gyrus	brain
11	chr2:101032600-101034600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:101032600-101034600	Active TSS	Fetal Brain Male	brain
13	chr2:101032800-101033800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr2:101032800-101033800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:101032800-101034400	Active TSS	NH-A	brain
16	chr2:101032800-101034600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:101032800-101034600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:101032800-101034600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:101032800-101034600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr2:101032800-101034600	Active TSS	HSMM	muscle
21	chr2:101032800-101035200	Active TSS	Brain Germinal Matrix	brain
22	chr2:101032800-101035200	Active TSS	Fetal Brain Female	brain
23	chr2:101033000-101033800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr2:101033000-101033800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:101033000-101033800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr2:101033000-101034400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:101033000-101034400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:101033000-101034400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:101033000-101034400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:101033000-101034400	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr2:101033000-101034400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:101033000-101034400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:101033000-101034400	Active TSS	Esophagus	oesophagus
34	chr2:101033000-101034400	Active TSS	Left Ventricle	heart
35	chr2:101033000-101034400	Active TSS	Lung	lung
36	chr2:101033000-101034400	Active TSS	Spleen	Spleen
37	chr2:101033000-101034400	Active TSS	Hela-S3	cervix
38	chr2:101033000-101034600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:101033000-101034600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:101033000-101034600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:101033000-101034600	Active TSS	Aorta	Aorta
42	chr2:101033000-101034600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:101033000-101034600	Active TSS	A549	lung
44	chr2:101033000-101034600	Active TSS	NHDF-Ad	bronchial
45	chr2:101033000-101034800	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:101033200-101033800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr2:101033200-101033800	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr2:101033200-101033800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:101033200-101033800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr2:101033200-101033800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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