Variant report

Variant	rs73926528
Chromosome Location	chr2:46843398-46843399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:126 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:46842725-46843851	K562	blood:	n/a	n/a
2	POLR2A	chr2:46843144-46844840	K562	blood:	n/a	n/a
3	E2F4	chr2:46843115-46843580	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:46843058-46844635	GM12878	blood:	n/a	n/a
5	USF2	chr2:46843343-46843647	Hela-S3	cervix:	n/a	n/a
6	MAX	chr2:46843392-46844617	ECC-1	luminal epithelium:	n/a	chr2:46844180-46844189
7	TBP	chr2:46843348-46844655	HepG2	liver:	n/a	n/a
8	CREB1	chr2:46843226-46844707	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:46843137-46845416	MCF10A-Er-Src	breast:	n/a	n/a
10	NFIC	chr2:46843230-46844610	HepG2	liver:	n/a	n/a
11	MAX	chr2:46843037-46844575	K562	blood:	n/a	chr2:46844180-46844189
12	BHLHE40	chr2:46843109-46844466	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:46843195-46844642	A549	lung:	n/a	n/a
14	CTCF	chr2:46843260-46843410	GM12865	blood:	n/a	n/a
15	CTCF	chr2:46843340-46843490	HCM	heart:	n/a	n/a
16	POLR2A	chr2:46843223-46844594	K562	blood:	n/a	n/a
17	MAFK	chr2:46843360-46843665	Hela-S3	cervix:	n/a	n/a
18	TBL1XR1	chr2:46843330-46843955	K562	blood:	n/a	n/a
19	NFIC	chr2:46843328-46844636	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:46843167-46844594	K562	blood:	n/a	n/a
21	EGR1	chr2:46842982-46843511	K562	blood:	n/a	chr2:46843198-46843212
22	MAX	chr2:46842957-46844718	A549	lung:	n/a	chr2:46844180-46844189
23	GATA3	chr2:46843157-46843544	SH-SY5Y	brain:	n/a	n/a
24	POLR2A	chr2:46842800-46844614	HepG2	liver:	n/a	n/a
25	MXI1	chr2:46842494-46845378	SK-N-SH	brain:	n/a	n/a
26	MYC	chr2:46843344-46844765	NB4	blood:	n/a	chr2:46844180-46844189
27	MAX	chr2:46843026-46844541	K562	blood:	n/a	chr2:46844180-46844189
28	MYBL2	chr2:46843104-46844621	HepG2	liver:	n/a	n/a
29	MAX	chr2:46843097-46844633	SK-N-SH	brain:	n/a	chr2:46844180-46844189
30	RCOR1	chr2:46843131-46844608	K562	blood:	n/a	n/a
31	NR2F2	chr2:46843085-46844600	K562	blood:	n/a	n/a
32	BACH1	chr2:46842868-46844396	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCL3	chr2:46843231-46844781	A549	lung:	n/a	chr2:46844308-46844317
34	HDAC2	chr2:46842951-46843518	HepG2	liver:	n/a	n/a
35	NFIC	chr2:46843283-46844589	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:46843051-46844595	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:46843075-46844567	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:46843114-46844870	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:46843123-46844597	GM15510	blood:	n/a	n/a
40	RAD21	chr2:46843013-46843399	SK-N-SH_RA	brain:	n/a	n/a
41	SIN3AK20	chr2:46843311-46844870	MCF-7	breast:	n/a	n/a
42	POLR2A	chr2:46843180-46844599	GM12892	blood:	n/a	n/a
43	MTA3	chr2:46843041-46844689	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:46843099-46844610	GM18505	blood:	n/a	n/a
45	CTCF	chr2:46843300-46843450	RPTEC	kidney:	n/a	n/a
46	POLR2A	chr2:46843210-46844726	Hela-S3	cervix:	n/a	n/a
47	MYC	chr2:46842867-46843463	MCF10A-Er-Src	breast:	n/a	n/a
48	RELA	chr2:46843084-46844606	GM15510	blood:	n/a	n/a
49	CTCF	chr2:46843065-46843416	IMR90	lung:	n/a	n/a
50	JUN	chr2:46843096-46843524	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
2	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
3	chr2:46843200..46845178-chr2:47140240..47142665,2	MCF-7	breast:
4	chr2:46806489..46808552-chr2:46842875..46845193,2	MCF-7	breast:
5	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
6	chr2:46838843..46841805-chr2:46843233..46844922,3	MCF-7	breast:
7	chr2:46842180..46843861-chr2:46924432..46926384,2	K562	blood:
8	chr2:46745227..46747707-chr2:46842896..46845007,2	K562	blood:
9	chr2:46839258..46842242-chr2:46842497..46844194,2	K562	blood:
10	chr2:46838114..46840779-chr2:46841900..46844194,2	MCF-7	breast:
11	chr2:46770485..46772962-chr2:46842113..46844264,3	MCF-7	breast:

No data

Variant related genes	Relation type
CRIPT	TF binding region
PIGF	TF binding region
ENSG00000151665	Chromatin interaction
ENSG00000171150	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000250116	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000180398	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17035454	1.00[AMR][1000 genomes]
rs57258681	1.00[AMR][1000 genomes]
rs59573958	1.00[AMR][1000 genomes]
rs60085835	0.86[AFR][1000 genomes]
rs60088761	0.86[AFR][1000 genomes]
rs73926525	0.86[AFR][1000 genomes]
rs73926527	0.86[AFR][1000 genomes]
rs73926530	0.86[AFR][1000 genomes]
rs73926531	0.86[AFR][1000 genomes]
rs73926532	0.86[AFR][1000 genomes]
rs73926533	0.86[AFR][1000 genomes]
rs73926535	0.86[AFR][1000 genomes]
rs73926536	0.86[AFR][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	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
9	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46842400-46844000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:46842600-46843600	Flanking Active TSS	Osteobl	bone
3	chr2:46842600-46844000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr2:46842600-46844000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:46842600-46845000	Active TSS	Fetal Intestine Large	intestine
6	chr2:46842600-46845400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:46842600-46845600	Active TSS	Aorta	Aorta
8	chr2:46842800-46843400	Flanking Active TSS	NHEK	skin
9	chr2:46842800-46843600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:46842800-46843600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:46842800-46843600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:46842800-46843600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:46842800-46843600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr2:46842800-46843600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:46842800-46843600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr2:46842800-46843600	Flanking Active TSS	Fetal Heart	heart
17	chr2:46842800-46843600	Flanking Active TSS	Dnd41	blood
18	chr2:46842800-46843600	Flanking Active TSS	HUVEC	blood vessel
19	chr2:46842800-46843800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:46842800-46843800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:46842800-46843800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:46842800-46843800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:46842800-46844000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr2:46842800-46844000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:46842800-46844600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:46842800-46844800	Active TSS	Duodenum Mucosa	Duodenum
27	chr2:46842800-46844800	Active TSS	Fetal Brain Female	brain
28	chr2:46842800-46845000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:46842800-46845000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:46842800-46845000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:46842800-46845200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:46842800-46845200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:46842800-46845400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:46842800-46845400	Active TSS	Right Atrium	heart
35	chr2:46843000-46843400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:46843000-46843400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:46843000-46843400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:46843000-46843400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:46843000-46843400	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr2:46843000-46843400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:46843000-46843400	Flanking Active TSS	Placenta	Placenta
42	chr2:46843000-46843400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:46843000-46843400	Flanking Active TSS	HSMM	muscle
44	chr2:46843000-46843400	Flanking Active TSS	NHLF	lung
45	chr2:46843000-46843600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr2:46843000-46843600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr2:46843000-46843600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr2:46843000-46843600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:46843000-46843600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:46843000-46843600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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