Variant report

Variant	rs72980318
Chromosome Location	chr2:234296221-234296222
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	NFIC	chr2:234296180-234296878	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr2:234295899-234297076	SK-N-SH	brain:	n/a	n/a
3	REST	chr2:234296165-234296663	A549	lung:	n/a	n/a
4	NR3C1	chr2:234296209-234297085	A549	lung:	n/a	n/a
5	NFIC	chr2:234296001-234296957	SK-N-SH	brain:	n/a	n/a
6	EP300	chr2:234296221-234296640	SK-N-SH_RA	brain:	n/a	n/a
7	SP1	chr2:234296026-234297044	A549	lung:	n/a	n/a
8	BCL3	chr2:234296008-234296949	A549	lung:	n/a	n/a
9	GATA3	chr2:234296040-234297142	A549	lung:	n/a	n/a
10	MAX	chr2:234296014-234297018	A549	lung:	n/a	chr2:234296408-234296418
11	EP300	chr2:234295889-234297076	A549	lung:	n/a	n/a
12	SP1	chr2:234296078-234297058	A549	lung:	n/a	n/a
13	EP300	chr2:234295984-234297022	A549	lung:	n/a	n/a
14	FOXA2	chr2:234296219-234296870	A549	lung:	n/a	n/a
15	POLR2A	chr2:234295880-234296760	IMR90	lung:	n/a	n/a
16	MAX	chr2:234296186-234296714	SK-N-SH	brain:	n/a	chr2:234296408-234296418
17	TCF7L2	chr2:234296137-234296564	Hela-S3	cervix:	n/a	n/a
18	MAX	chr2:234294845-234297262	A549	lung:	n/a	chr2:234295362-234295371 chr2:234296408-234296418
19	MAX	chr2:234296165-234296837	Hela-S3	cervix:	n/a	chr2:234296408-234296418
20	MAX	chr2:234296193-234296846	A549	lung:	n/a	chr2:234296408-234296418
21	TCF12	chr2:234294747-234297191	A549	lung:	n/a	n/a
22	POLR2A	chr2:234293343-234297175	GM12891	blood:	n/a	n/a
23	FOSL2	chr2:234294908-234296746	A549	lung:	n/a	chr2:234295363-234295371 chr2:234295362-234295372 chr2:234295362-234295372 chr2:234295361-234295373 chr2:234295359-234295370
24	RAD21	chr2:234296134-234296847	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:

Variant related genes	Relation type
DGKD	TF binding region
ENSG00000077044	Chromatin interaction
ENSG00000243637	Chromatin interaction
ENSG00000259793	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1046976	0.84[EUR][1000 genomes]
rs11675531	0.95[EUR][1000 genomes]
rs11679008	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13384918	0.84[EUR][1000 genomes]
rs13420688	0.84[EUR][1000 genomes]
rs55684040	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55693723	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55804614	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55893802	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082182	0.95[EUR][1000 genomes]
rs56405280	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58280122	0.94[EUR][1000 genomes]
rs72978363	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72978374	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72978375	0.95[EUR][1000 genomes]
rs7573866	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7598771	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:234272800-234313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:234281800-234296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:234282400-234298000	Weak transcription	Dnd41	blood
7	chr2:234289000-234307600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:234290600-234297000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:234290800-234296800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:234291000-234297000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:234292000-234297200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:234292200-234296400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:234292200-234296600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:234292200-234297200	Enhancers	Fetal Heart	heart
15	chr2:234292200-234297200	Enhancers	Left Ventricle	heart
16	chr2:234292400-234296800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:234292400-234297200	Enhancers	Right Ventricle	heart
18	chr2:234292600-234297000	Enhancers	Fetal Stomach	stomach
19	chr2:234292600-234297000	Enhancers	Fetal Thymus	thymus
20	chr2:234292600-234298400	Enhancers	Fetal Muscle Leg	muscle
21	chr2:234292800-234296800	Enhancers	Esophagus	oesophagus
22	chr2:234293000-234297000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:234293200-234296400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:234293200-234307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:234293400-234297200	Enhancers	Brain Angular Gyrus	brain
26	chr2:234293400-234297200	Enhancers	Right Atrium	heart
27	chr2:234293600-234297200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:234293800-234308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:234293800-234308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:234294000-234296600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:234294000-234297200	Enhancers	Fetal Brain Male	brain
32	chr2:234294200-234306600	Weak transcription	HMEC	breast
33	chr2:234294400-234296600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:234294400-234296600	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:234294600-234297200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr2:234294600-234298200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:234294600-234318800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:234294800-234296600	Enhancers	NHLF	lung
39	chr2:234294800-234296800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:234294800-234296800	Enhancers	Gastric	stomach
41	chr2:234294800-234296800	Flanking Active TSS	A549	lung
42	chr2:234294800-234297200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:234294800-234297200	Enhancers	Lung	lung
44	chr2:234295000-234296400	Enhancers	Liver	Liver
45	chr2:234295000-234296600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:234295000-234296600	Enhancers	Spleen	Spleen
47	chr2:234295000-234296600	Enhancers	NHEK	skin
48	chr2:234295000-234296800	Enhancers	Stomach Mucosa	stomach
49	chr2:234295000-234297200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:234295000-234297200	Enhancers	Placenta	Placenta

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