Variant report

Variant	rs73995919
Chromosome Location	chr2:234264653-234264654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234263905-234266140	GM12891	blood:	n/a	n/a
2	POLR2A	chr2:234263828-234264767	SK-N-MC	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
2	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
3	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
4	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
5	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
6	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
7	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
8	chr2:234264479..234266031-chr2:234270714..234272402,2	K562	blood:
9	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
10	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259793	TF binding region
ENSG00000251791	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000201013	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000130561	Chromatin interaction

Extended variants
information (count: 67 )
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]
rs73995918	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:11 , 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
10	esv1796836	chr2:234263212-234266842	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:234262800-234264800	Active TSS	HSMM	muscle
4	chr2:234262800-234264800	Active TSS	HSMMtube	muscle
5	chr2:234263600-234264800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:234263600-234264800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:234263600-234265000	Flanking Active TSS	Placenta	Placenta
8	chr2:234263600-234265200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:234263800-234264800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr2:234263800-234264800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr2:234263800-234265000	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr2:234263800-234265000	Flanking Active TSS	NHEK	skin
13	chr2:234263800-234265200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr2:234263800-234265200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:234263800-234265200	Flanking Active TSS	Dnd41	blood
16	chr2:234263800-234265400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:234263800-234265400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr2:234263800-234266200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:234263800-234268400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:234263800-234268400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:234264000-234264800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:234264000-234264800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:234264000-234264800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr2:234264000-234264800	Flanking Active TSS	Fetal Brain Female	brain
25	chr2:234264000-234264800	Flanking Active TSS	Ovary	ovary
26	chr2:234264000-234265000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:234264000-234265000	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr2:234264000-234265000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr2:234264000-234265000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr2:234264000-234265000	Flanking Active TSS	Hela-S3	cervix
31	chr2:234264000-234265200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr2:234264000-234266000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr2:234264000-234266000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:234264000-234266000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr2:234264000-234266000	Transcr. at gene 5' and 3'	A549	lung
36	chr2:234264000-234266000	Flanking Active TSS	GM12878-XiMat	blood
37	chr2:234264000-234267800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:234264200-234264800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:234264200-234264800	Enhancers	Right Ventricle	heart
40	chr2:234264200-234264800	Active TSS	Stomach Smooth Muscle	stomach
41	chr2:234264200-234264800	Flanking Active TSS	HepG2	liver
42	chr2:234264200-234264800	Enhancers	K562	blood
43	chr2:234264200-234265000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr2:234264200-234265000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:234264200-234265400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:234264200-234266000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:234264200-234266000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr2:234264200-234266600	Enhancers	Spleen	Spleen
49	chr2:234264400-234264800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:234264400-234264800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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