Variant report

Variant	rs4149505
Chromosome Location	chr2:101033697-101033698
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	chr2:101033427-101034328	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	POLR2A	chr2:101033275-101034403	K562	blood:	n/a	n/a
7	CHD2	chr2:101033543-101033752	K562	blood:	n/a	n/a
8	POLR2A	chr2:101033514-101034311	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr2:101033676-101034346	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr2:101033683-101034158	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr2:101033636-101034360	K562	blood:	n/a	n/a
12	HDAC2	chr2:101033633-101034380	HepG2	liver:	n/a	chr2:101034331-101034345 chr2:101034330-101034344 chr2:101034357-101034371
13	POLR2A	chr2:101033449-101034296	HEK293	kidney:	n/a	n/a
14	MAX	chr2:101033093-101033951	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr2:101032980-101034331	H1-neurons	neurons:	n/a	n/a
16	MAX	chr2:101033155-101033794	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr2:101033398-101033814	A549	lung:	n/a	chr2:101033641-101033652
18	POLR2A	chr2:101033659-101034289	GM10847	blood:	n/a	n/a
19	HMGN3	chr2:101033438-101034306	K562	blood:	n/a	n/a
20	POLR2A	chr2:101033667-101034254	HUVEC	blood vessel:	n/a	n/a
21	REST	chr2:101033107-101034243	H1-neurons	neurons:	n/a	chr2:101033777-101033790
22	EBF1	chr2:101033648-101033969	GM12878	blood:	n/a	n/a
23	MAZ	chr2:101033033-101034400	IMR90	lung:	n/a	n/a
24	TAF1	chr2:101033621-101034254	K562	blood:	n/a	n/a
25	SIN3AK20	chr2:101033545-101034301	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr2:101033042-101034304	H1-neurons	neurons:	n/a	n/a
27	GABPA	chr2:101033662-101034247	K562	blood:	n/a	chr2:101033813-101033822
28	JUND	chr2:101033636-101034149	K562	blood:	n/a	n/a
29	CEBPB	chr2:101033310-101033846	K562	blood:	n/a	chr2:101033641-101033652
30	POLR2A	chr2:101033557-101034394	K562	blood:	n/a	n/a
31	POLR2A	chr2:101033397-101034394	SK-N-MC	brain:	n/a	n/a
32	CEBPB	chr2:101033484-101033815	A549	lung:	n/a	chr2:101033641-101033652
33	HCFC1	chr2:101033493-101034258	K562	blood:	n/a	n/a
34	E2F6	chr2:101033207-101034035	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:101033462-101033833	HepG2	liver:	n/a	chr2:101033641-101033652
36	POLR2A	chr2:101033497-101034399	GM12892	blood:	n/a	n/a
37	ELF1	chr2:101033573-101034327	GM12878	blood:	n/a	n/a
38	ZBTB7A	chr2:101033472-101034431	ECC-1	luminal epithelium:	n/a	n/a
39	BACH1	chr2:101033612-101034385	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr2:101033641-101034210	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr2:101033042-101034375	HepG2	liver:	n/a	n/a
42	MAX	chr2:101033073-101034266	NB4	blood:	n/a	n/a
43	MAX	chr2:101033141-101034377	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr2:101033640-101034298	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr2:101033682-101034152	HepG2	liver:	n/a	n/a
46	CHD2	chr2:101033531-101034032	Hela-S3	cervix:	n/a	n/a
47	MAX	chr2:101033083-101034305	A549	lung:	n/a	n/a
48	POLR2A	chr2:101033556-101034408	K562	blood:	n/a	n/a
49	CEBPB	chr2:101033380-101033849	MCF-7	breast:	n/a	chr2:101033641-101033652
50	POLR2A	chr2:101033657-101034204	GM12891	blood:	n/a	n/a

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.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LONRF2-1	chr2:101033593-101033717	NONHSAT072778

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

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10048665	0.91[EUR][1000 genomes]
rs10174145	0.93[EUR][1000 genomes]
rs10180423	0.85[EUR][1000 genomes]
rs10182399	0.92[EUR][1000 genomes]
rs10183150	0.89[EUR][1000 genomes]
rs10186134	0.86[EUR][1000 genomes]
rs10193204	0.93[EUR][1000 genomes]
rs10194210	0.85[EUR][1000 genomes]
rs10195793	0.86[EUR][1000 genomes]
rs10202326	0.92[EUR][1000 genomes]
rs1030901	0.93[EUR][1000 genomes]
rs1030902	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10460478	0.85[EUR][1000 genomes]
rs11123824	0.86[EUR][1000 genomes]
rs11123826	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11123827	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1114595	0.85[EUR][1000 genomes]
rs11674569	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11674830	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11675901	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11678148	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11678158	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680660	0.93[EUR][1000 genomes]
rs11682557	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11682748	0.87[EUR][1000 genomes]
rs11683121	0.85[EUR][1000 genomes]
rs11684004	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684516	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11685250	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11685406	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686293	0.87[EUR][1000 genomes]
rs11686649	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686799	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686842	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686880	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687352	0.85[EUR][1000 genomes]
rs11687865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11688285	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11689439	0.86[EUR][1000 genomes]
rs11691135	0.94[EUR][1000 genomes]
rs11691684	0.87[EUR][1000 genomes]
rs11693044	0.87[EUR][1000 genomes]
rs11693424	0.86[EUR][1000 genomes]
rs11693471	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11694642	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694700	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11892034	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11895772	0.85[EUR][1000 genomes]
rs12373827	0.88[EUR][1000 genomes]
rs12615466	0.87[EUR][1000 genomes]
rs12617779	0.94[EUR][1000 genomes]
rs12618908	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12621892	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12622318	0.87[EUR][1000 genomes]
rs12712075	0.86[EUR][1000 genomes]
rs12989897	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12990688	0.85[EUR][1000 genomes]
rs12991172	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12991577	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12997725	0.93[EUR][1000 genomes]
rs12999151	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12999779	0.86[EUR][1000 genomes]
rs13001423	0.86[EUR][1000 genomes]
rs13006224	0.86[EUR][1000 genomes]
rs13020451	0.86[EUR][1000 genomes]
rs13021801	0.92[EUR][1000 genomes]
rs13023534	0.86[EUR][1000 genomes]
rs13026570	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13031711	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13031906	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1437967	0.82[EUR][1000 genomes]
rs1437969	0.88[EUR][1000 genomes]
rs1530028	0.87[EUR][1000 genomes]
rs1530029	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1530030	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530031	0.94[EUR][1000 genomes]
rs1811415	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1837143	0.85[EUR][1000 genomes]
rs1866198	0.84[EUR][1000 genomes]
rs1946799	0.80[EUR][1000 genomes]
rs1967339	0.85[EUR][1000 genomes]
rs1967340	0.80[EUR][1000 genomes]
rs1967341	0.86[EUR][1000 genomes]
rs2099611	0.90[EUR][1000 genomes]
rs2164847	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241809	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2241810	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2241811	0.89[EUR][1000 genomes]
rs2309798	0.92[EUR][1000 genomes]
rs2309800	0.87[EUR][1000 genomes]
rs2309852	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3748930	0.94[EUR][1000 genomes]
rs3828193	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149507	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149510	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149512	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4149513	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149517	0.89[EUR][1000 genomes]
rs4149518	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149523	0.88[EUR][1000 genomes]
rs4264577	0.91[EUR][1000 genomes]
rs4340543	0.93[EUR][1000 genomes]
rs4378827	0.88[EUR][1000 genomes]
rs4387816	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4407265	0.87[EUR][1000 genomes]
rs4477940	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4635546	0.83[EUR][1000 genomes]
rs4640404	0.88[EUR][1000 genomes]
rs4850927	0.94[EUR][1000 genomes]
rs4850929	0.88[EUR][1000 genomes]
rs4850930	0.88[EUR][1000 genomes]
rs4850931	0.93[EUR][1000 genomes]
rs4851292	0.87[EUR][1000 genomes]
rs4851293	0.86[EUR][1000 genomes]
rs4851294	0.94[EUR][1000 genomes]
rs4851297	0.90[EUR][1000 genomes]
rs4851298	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4851302	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4851303	0.87[EUR][1000 genomes]
rs4851304	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851305	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851310	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4851311	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4851312	0.89[EUR][1000 genomes]
rs4851313	0.87[EUR][1000 genomes]
rs4851315	0.87[ASN][1000 genomes]
rs62148360	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6542940	0.89[EUR][1000 genomes]
rs6542942	0.91[EUR][1000 genomes]
rs6542944	0.88[EUR][1000 genomes]
rs6542947	0.88[EUR][1000 genomes]
rs6716636	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6725052	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6731549	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6736311	0.92[EUR][1000 genomes]
rs6737217	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6749018	0.91[EUR][1000 genomes]
rs6754176	0.88[EUR][1000 genomes]
rs6757754	0.92[EUR][1000 genomes]
rs74177694	0.92[EUR][1000 genomes]
rs74177695	0.89[EUR][1000 genomes]
rs74177696	0.88[EUR][1000 genomes]
rs7425449	0.87[EUR][1000 genomes]
rs7425797	0.87[EUR][1000 genomes]
rs7585582	0.88[EUR][1000 genomes]
rs7590388	0.84[EUR][1000 genomes]
rs7597615	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs893416	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs920269	0.84[EUR][1000 genomes]
rs920270	0.84[EUR][1000 genomes]
rs930374	0.86[EUR][1000 genomes]
rs9646954	0.88[ASN][1000 genomes]
rs9973536	0.89[EUR][1000 genomes]

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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