Variant report

Variant	rs73995918
Chromosome Location	chr2:234262663-234262664
allele	A/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	MBD4	chr2:234262127-234263030	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:234262646-234262982	GM12891	blood:	n/a	n/a
3	TCF7L2	chr2:234261810-234262830	Hela-S3	cervix:	n/a	chr2:234262366-234262375
4	TCF7L2	chr2:234262171-234262842	PANC-1	pancreas:	n/a	chr2:234262366-234262375
5	POLR2A	chr2:234262620-234262929	GM12891	blood:	n/a	n/a
6	MYC	chr2:234262259-234262669	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:234262432-234262851	Hela-S3	cervix:	n/a	n/a
8	POU2F2	chr2:234262633-234262972	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:234261828-234263785	GM15510	blood:	n/a	n/a
10	TFAP2A	chr2:234261687-234262905	Hela-S3	cervix:	n/a	chr2:234262489-234262504 chr2:234261870-234261884
11	MTA3	chr2:234261824-234263079	GM12878	blood:	n/a	n/a
12	RUNX3	chr2:234262468-234263076	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:234262560-234263039	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:234262238-234262967	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:234262251-234263463	Hela-S3	cervix:	n/a	n/a
16	MAX	chr2:234262155-234262838	MCF-7	breast:	n/a	n/a
17	HDAC2	chr2:234262166-234262676	HepG2	liver:	n/a	chr2:234262454-234262463
18	MAZ	chr2:234262464-234264013	IMR90	lung:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
19	NR2F2	chr2:234262148-234262803	K562	blood:	n/a	n/a
20	REST	chr2:234262356-234263590	H1-neurons	neurons:	n/a	chr2:234263151-234263164 chr2:234263047-234263060
21	MXI1	chr2:234262437-234263323	GM12878	blood:	n/a	n/a
22	MAZ	chr2:234262337-234263350	Hela-S3	cervix:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
23	PAX5	chr2:234262610-234262943	GM12878	blood:	n/a	chr2:234262771-234262780
24	CTCF	chr2:234262660-234262810	HRPEpiC	eye:	n/a	n/a
25	POLR2A	chr2:234261698-234263437	GM18505	blood:	n/a	n/a
26	E2F6	chr2:234262243-234263063	A549	lung:	n/a	chr2:234263041-234263050
27	HDAC2	chr2:234262142-234262685	HepG2	liver:	n/a	chr2:234262454-234262463
28	NFIC	chr2:234262501-234263008	GM12878	blood:	n/a	n/a
29	HMGN3	chr2:234262262-234263393	K562	blood:	n/a	chr2:234262456-234262463
30	PAX5	chr2:234262653-234262910	GM12892	blood:	n/a	chr2:234262771-234262780
31	TCF7L2	chr2:234262238-234262861	HEK293	kidney:	n/a	chr2:234262366-234262375
32	TBL1XR1	chr2:234262281-234263060	GM12878	blood:	n/a	n/a
33	MXI1	chr2:234262369-234263383	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:234262364-234262951	SK-N-MC	brain:	n/a	n/a
35	UBTF	chr2:234262288-234262835	K562	blood:	n/a	n/a
36	MEF2A	chr2:234262492-234263118	GM12878	blood:	n/a	chr2:234262922-234262936
37	POLR2A	chr2:234261859-234263455	GM12892	blood:	n/a	n/a
38	TAF1	chr2:234262611-234263040	GM12878	blood:	n/a	n/a
39	CTCF	chr2:234262660-234262810	AG10803	skin:	n/a	n/a
40	ELF1	chr2:234262601-234263475	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:234262397-234262958	GM12892	blood:	n/a	n/a
42	CTCF	chr2:234262600-234262750	SAEC	small airway:	n/a	n/a
43	MTA3	chr2:234262450-234263016	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:234262031-234263352	GM12891	blood:	n/a	n/a
45	MAZ	chr2:234262219-234263331	K562	blood:	n/a	chr2:234263057-234263067 chr2:234262959-234262969 chr2:234263026-234263035
46	POLR2A	chr2:234262362-234262934	GM12892	blood:	n/a	n/a
47	TCF7L2	chr2:234262088-234262799	HCT-116	colon:	n/a	chr2:234262366-234262375
48	POLR2A	chr2:234262465-234263376	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr2:234262141-234263436	GM19099	blood:	n/a	n/a
50	POLR2A	chr2:234262585-234262939	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234260930..234263276-chr20:55839671..55841991,2	MCF-7	breast:
2	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
3	chr2:234245499..234247293-chr2:234261946..234264130,2	K562	blood:
4	chr2:233749631..233751772-chr2:234261254..234263295,2	MCF-7	breast:
5	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000259793	TF binding region
ENSG00000243637	TF binding region
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000066248	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs4588184	1.00[AMR][1000 genomes]
rs56273947	0.86[AFR][1000 genomes]
rs56274731	1.00[AMR][1000 genomes]
rs56306918	1.00[AMR][1000 genomes]
rs56317380	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57285092	1.00[AMR][1000 genomes]
rs58330864	1.00[AMR][1000 genomes]
rs58489211	1.00[AMR][1000 genomes]
rs58583213	1.00[AMR][1000 genomes]
rs58864422	1.00[AMR][1000 genomes]
rs59543173	1.00[AMR][1000 genomes]
rs60188595	0.81[AFR][1000 genomes]
rs61376069	1.00[AMR][1000 genomes]
rs6707862	0.81[AFR][1000 genomes]
rs6726032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734355	1.00[AMR][1000 genomes]
rs73995909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995911	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995944	1.00[AMR][1000 genomes]
rs73995946	1.00[AMR][1000 genomes]
rs73995947	1.00[AMR][1000 genomes]
rs73995948	1.00[AMR][1000 genomes]
rs73995949	1.00[AMR][1000 genomes]
rs73995950	1.00[AMR][1000 genomes]
rs73995970	1.00[AMR][1000 genomes]
rs73995972	1.00[AMR][1000 genomes]
rs73995973	1.00[AMR][1000 genomes]
rs73995974	1.00[AMR][1000 genomes]
rs73995980	1.00[AMR][1000 genomes]
rs73996001	1.00[AMR][1000 genomes]
rs73996105	1.00[AMR][1000 genomes]
rs73996107	1.00[AMR][1000 genomes]
rs73996118	1.00[AMR][1000 genomes]
rs73996119	1.00[AMR][1000 genomes]
rs73996120	1.00[AMR][1000 genomes]
rs73996121	1.00[AMR][1000 genomes]
rs73997606	1.00[AMR][1000 genomes]
rs73997607	1.00[AMR][1000 genomes]
rs73997608	1.00[AMR][1000 genomes]
rs73997611	1.00[AMR][1000 genomes]
rs73997612	1.00[AMR][1000 genomes]
rs73997630	1.00[AMR][1000 genomes]
rs73997631	1.00[AMR][1000 genomes]
rs73997633	1.00[AMR][1000 genomes]
rs73997637	1.00[AMR][1000 genomes]
rs73997638	1.00[AMR][1000 genomes]
rs73998355	0.81[AFR][1000 genomes]
rs745154	1.00[AMR][1000 genomes]
rs7580191	1.00[AMR][1000 genomes]
rs7584192	1.00[AMR][1000 genomes]
rs7593807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3421822	chr2:234262038-234264786	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3363039	chr2:234262388-234264686	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 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	chr2:234257800-234263000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:234259400-234263200	Weak transcription	Small Intestine	intestine
3	chr2:234261400-234262800	Flanking Active TSS	GM12878-XiMat	blood
4	chr2:234261400-234263000	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:234261600-234262800	Enhancers	Stomach Mucosa	stomach
6	chr2:234261600-234262800	Flanking Active TSS	Hela-S3	cervix
7	chr2:234261800-234262800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:234261800-234262800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:234261800-234263000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr2:234261800-234263000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:234262000-234262800	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr2:234262000-234262800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:234262000-234262800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:234262000-234262800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr2:234262000-234262800	Flanking Active TSS	Fetal Brain Female	brain
16	chr2:234262000-234262800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:234262000-234263000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr2:234262000-234263000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:234262000-234263000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:234262000-234263800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:234262200-234262800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:234262200-234262800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:234262200-234262800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:234262200-234262800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:234262200-234262800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr2:234262200-234262800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr2:234262200-234262800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr2:234262200-234262800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:234262200-234262800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:234262200-234262800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:234262200-234262800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:234262200-234262800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr2:234262200-234262800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:234262200-234262800	Flanking Active TSS	Fetal Stomach	stomach
35	chr2:234262200-234262800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr2:234262200-234262800	Flanking Active TSS	Thymus	Thymus
37	chr2:234262200-234262800	Flanking Active TSS	A549	lung
38	chr2:234262200-234263000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr2:234262200-234263000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr2:234262200-234263000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:234262200-234263000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:234262200-234264000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr2:234262200-234264000	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:234262200-234264200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr2:234262400-234262800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr2:234262400-234262800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr2:234262400-234262800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:234262400-234262800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:234262400-234262800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:234262400-234262800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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