Variant report

Variant	rs72964873
Chromosome Location	chr2:101178774-101178775
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:101178201-101180511	K562	blood:	n/a	chr2:101179689-101179698 chr2:101180362-101180373
2	POLR2A	chr2:101178503-101180157	GM19099	blood:	n/a	n/a
3	JUND	chr2:101178726-101180250	K562	blood:	n/a	chr2:101179689-101179698
4	MAZ	chr2:101178134-101180445	IMR90	lung:	n/a	chr2:101178474-101178489
5	MXI1	chr2:101178722-101180083	GM12878	blood:	n/a	n/a
6	RCOR1	chr2:101178524-101178783	K562	blood:	n/a	n/a
7	POLR2A	chr2:101178766-101180075	GM18526	blood:	n/a	n/a
8	POLR2A	chr2:101178417-101180049	PBDE	blood:	n/a	n/a
9	TBP	chr2:101178601-101180221	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:101178225-101180195	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:101178759-101178793	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:101178255-101180576	GM12878	blood:	n/a	n/a
13	HCFC1	chr2:101178640-101180603	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr2:101178766-101178780	ProgFib	skin:	n/a	n/a
15	POLR2A	chr2:101178202-101180048	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:101178762-101180108	SK-N-MC	brain:	n/a	n/a
17	RCOR1	chr2:101177752-101180458	IMR90	lung:	n/a	n/a
18	POLR2A	chr2:101178297-101180233	K562	blood:	n/a	n/a
19	MXI1	chr2:101178771-101180629	SK-N-SH	brain:	n/a	n/a
20	CCNT2	chr2:101178239-101178802	K562	blood:	n/a	n/a
21	POLR2A	chr2:101178337-101180558	GM12892	blood:	n/a	n/a
22	MXI1	chr2:101178402-101180323	IMR90	lung:	n/a	n/a
23	CHD1	chr2:101178610-101178818	GM12878	blood:	n/a	n/a
24	GTF3C2	chr2:101178559-101179155	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:101178522-101180123	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:101178728-101180012	PFSK-1	brain:	n/a	n/a
27	RPC155	chr2:101178321-101179291	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:101178278-101180076	Raji	blood:	n/a	n/a
29	POLR2A	chr2:101178202-101180334	GM12891	blood:	n/a	n/a
30	RCOR1	chr2:101178529-101178807	K562	blood:	n/a	n/a
31	POLR2A	chr2:101178339-101180288	K562	blood:	n/a	n/a
32	POLR2A	chr2:101178426-101180492	GM12878	blood:	n/a	n/a
33	RELA	chr2:101178566-101180127	GM15510	blood:	n/a	n/a
34	POLR2A	chr2:101178561-101180316	K562	blood:	n/a	n/a
35	SIN3AK20	chr2:101178771-101180309	MCF-7	breast:	n/a	n/a
36	GATA1	chr2:101178710-101180148	PBDE	blood:	n/a	chr2:101180029-101180037
37	POLR2A	chr2:101178408-101180097	GM12878	blood:	n/a	n/a
38	ZNF143	chr2:101178611-101178823	K562	blood:	n/a	n/a
39	POLR2A	chr2:101178271-101179997	GM12878	blood:	n/a	n/a
40	PML	chr2:101178731-101180270	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:101178365-101180027	NB4	blood:	n/a	n/a
42	POLR2A	chr2:101178399-101180128	GM18505	blood:	n/a	n/a
43	MYC	chr2:101178728-101180060	K562	blood:	n/a	n/a
44	POLR2A	chr2:101178735-101180092	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:101178619-101180103	GM15510	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:101176864..101179772-chr2:101619065..101621695,2	MCF-7	breast:
2	chr2:101033038..101035627-chr2:101178228..101182939,5	K562	blood:
3	chr2:101177750..101180702-chr2:101616968..101620230,4	MCF-7	breast:
4	chr2:101177817..101179680-chr2:101183661..101186374,4	K562	blood:
5	chr2:101177993..101180966-chr2:101192692..101194735,2	K562	blood:
6	chr2:101177732..101180772-chr2:101616573..101620250,3	K562	blood:
7	chr2:101178645..101181337-chr2:101184679..101187696,4	MCF-7	breast:

No data

Variant related genes	Relation type
PDCL3	TF binding region
ENSG00000238328	Chromatin interaction
ENSG00000223947	Chromatin interaction
ENSG00000115526	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1000867	1.00[AMR][1000 genomes]
rs17024403	1.00[AMR][1000 genomes]
rs17024475	1.00[AMR][1000 genomes]
rs17024488	1.00[AMR][1000 genomes]
rs1879117	1.00[AMR][1000 genomes]
rs57227647	1.00[AMR][1000 genomes]
rs59150829	1.00[AMR][1000 genomes]
rs61509237	1.00[AMR][1000 genomes]
rs72964111	1.00[AMR][1000 genomes]
rs72964175	1.00[AMR][1000 genomes]
rs72964843	1.00[AMR][1000 genomes]
rs72966124	1.00[AMR][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	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101178200-101178800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:101178200-101178800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:101178200-101178800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr2:101178200-101178800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr2:101178200-101178800	Flanking Active TSS	A549	lung
6	chr2:101178200-101178800	Flanking Active TSS	Dnd41	blood
7	chr2:101178200-101179000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:101178200-101179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:101178400-101178800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:101178400-101178800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:101178400-101178800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:101178400-101178800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:101178400-101178800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:101178400-101178800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:101178400-101178800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:101178400-101178800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:101178400-101178800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:101178400-101178800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:101178400-101178800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:101178400-101178800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr2:101178400-101178800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:101178400-101178800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr2:101178400-101178800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr2:101178400-101178800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:101178400-101178800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:101178400-101178800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:101178400-101178800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:101178400-101178800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:101178400-101178800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:101178400-101178800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr2:101178400-101178800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:101178400-101178800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:101178400-101178800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr2:101178400-101178800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr2:101178400-101178800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr2:101178400-101178800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr2:101178400-101178800	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr2:101178400-101178800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr2:101178400-101178800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr2:101178400-101178800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr2:101178400-101178800	Enhancers	Esophagus	oesophagus
42	chr2:101178400-101178800	Enhancers	Fetal Heart	heart
43	chr2:101178400-101178800	Enhancers	Gastric	stomach
44	chr2:101178400-101178800	Enhancers	Pancreas	Pancrea
45	chr2:101178400-101178800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr2:101178400-101178800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr2:101178400-101178800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:101178400-101178800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:101178400-101178800	Enhancers	Spleen	Spleen
50	chr2:101178400-101178800	Flanking Active TSS	GM12878-XiMat	blood

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