Variant report

Variant	rs72785282
Chromosome Location	chr2:20442733-20442734
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	POLR2A	chr2:20442675-20442925	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:20442332-20444596	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:20442403-20443308	U87	brain:	n/a	n/a
4	POLR2A	chr2:20442389-20443788	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:20442372-20443129	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr2:20442359-20444693	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:20442349-20447377	PANC-1	pancreas:	n/a	n/a
8	CTCF	chr2:20442680-20442830	GM06990	blood:	n/a	n/a
9	POLR2A	chr2:20442473-20443224	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:20442523-20443374	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:20442384-20443265	GM12891	blood:	n/a	n/a
12	CTCF	chr2:20441535-20442938	A549	lung:	n/a	chr2:20442906-20442915 chr2:20442579-20442588
13	POLR2A	chr2:20442319-20444736	GM12878	blood:	n/a	n/a
14	CTCF	chr2:20442389-20442749	HepG2	liver:	n/a	chr2:20442579-20442588
15	SRF	chr2:20442683-20443140	H1-hESC	embryonic stem cell:	n/a	chr2:20442940-20442957 chr2:20442939-20442952 chr2:20442940-20442954 chr2:20442938-20442953 chr2:20442937-20442955 chr2:20442940-20442951 chr2:20442941-20442955 chr2:20442937-20442951
16	MAX	chr2:20442704-20443074	H1-hESC	embryonic stem cell:	n/a	chr2:20442737-20442747 chr2:20442865-20442876
17	POLR2A	chr2:20441943-20449974	K562	blood:	n/a	n/a
18	POLR2A	chr2:20442436-20443302	U87	brain:	n/a	n/a
19	BCL3	chr2:20442520-20443386	A549	lung:	n/a	n/a
20	POLR2A	chr2:20442591-20443057	K562	blood:	n/a	n/a
21	POLR2A	chr2:20442293-20442750	GM12892	blood:	n/a	n/a
22	POLR2A	chr2:20442608-20443173	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr2:20442459-20447911	GM12878	blood:	n/a	n/a
24	MAX	chr2:20442680-20442982	H1-hESC	embryonic stem cell:	n/a	chr2:20442737-20442747 chr2:20442865-20442876
25	MAX	chr2:20442497-20443087	H1-hESC	embryonic stem cell:	n/a	chr2:20442737-20442747 chr2:20442576-20442587 chr2:20442865-20442876
26	POLR2A	chr2:20442389-20443314	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr2:20442370-20443345	GM12892	blood:	n/a	n/a
28	POLR2A	chr2:20441272-20443298	HepG2	liver:	n/a	n/a
29	CTCF	chr2:20442600-20442750	MCF-7	breast:	n/a	n/a
30	E2F6	chr2:20442566-20443210	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:20441793-20444944	A549	lung:	n/a	n/a
32	POLR2A	chr2:20442596-20443170	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:20442560-20442830	GM06990	blood:	n/a	chr2:20442579-20442588
34	POLR2A	chr2:20442448-20443267	Hela-S3	cervix:	n/a	n/a
35	FOXA1	chr2:20442411-20442805	HepG2	liver:	n/a	n/a
36	CTCF	chr2:20442660-20442810	GM12866	blood:	n/a	n/a
37	POLR2A	chr2:20442378-20446131	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr2:20442391-20443227	K562	blood:	n/a	n/a
39	POLR2A	chr2:20442677-20443170	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:20442429-20443170	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20422151..20423763-chr2:20440457..20442911,2	MCF-7	breast:
2	chr2:20442462..20444292-chr2:20444678..20446517,2	MCF-7	breast:
3	chr2:20438741..20440683-chr2:20441500..20444456,2	MCF-7	breast:
4	chr2:20437602..20439619-chr2:20440851..20444211,3	MCF-7	breast:
5	chr2:20441679..20444514-chr2:20449489..20452544,3	K562	blood:
6	chr2:20432388..20434846-chr2:20442190..20444125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235411	TF binding region
ENSG00000115884	Chromatin interaction
ENSG00000238735	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10175853	0.87[ASN][1000 genomes]
rs10187080	0.90[ASN][1000 genomes]
rs10192042	0.87[ASN][1000 genomes]
rs10206974	0.84[ASN][1000 genomes]
rs1043400	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460445	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10460449	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10460450	0.87[ASN][1000 genomes]
rs10460451	0.85[ASN][1000 genomes]
rs10495704	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10856797	0.90[ASN][1000 genomes]
rs11096650	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11096654	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11888357	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11895228	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11896241	0.88[ASN][1000 genomes]
rs11898408	0.81[EUR][1000 genomes]
rs11900127	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11902769	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903745	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465832	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12472685	0.98[ASN][1000 genomes]
rs12473500	0.86[ASN][1000 genomes]
rs12474897	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12478265	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13393733	0.98[ASN][1000 genomes]
rs17612703	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072464	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080190	0.80[EUR][1000 genomes]
rs2110410	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2348703	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34678899	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3796066	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3821218	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62111433	0.81[AMR][1000 genomes]
rs62123442	0.98[ASN][1000 genomes]
rs6748274	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72785217	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785218	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785278	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785295	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785297	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785298	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785300	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785301	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787406	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72787409	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72787411	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787415	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72787433	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72787499	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72787501	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72788905	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs741188	0.81[EUR][1000 genomes]
rs7558385	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7558833	0.87[ASN][1000 genomes]
rs7563245	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582642	0.87[ASN][1000 genomes]
rs7595266	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306890	0.87[ASN][1000 genomes]
rs9306891	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3449290	chr2:20441521-20443469	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3438551	chr2:20442021-20443019	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20426000-20447000	Weak transcription	GM12878-XiMat	blood
2	chr2:20431400-20446800	Weak transcription	Spleen	Spleen
3	chr2:20431800-20444200	Weak transcription	A549	lung
4	chr2:20431800-20446200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:20436200-20446600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:20436200-20447000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:20436600-20452600	Weak transcription	Gastric	stomach
10	chr2:20436800-20445800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:20437000-20446400	Weak transcription	Hela-S3	cervix
12	chr2:20437000-20447000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:20437800-20448000	Weak transcription	HMEC	breast
15	chr2:20438000-20445600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:20439400-20447200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:20440200-20444400	Enhancers	Placenta	Placenta
19	chr2:20440600-20443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:20440600-20446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:20440600-20447000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:20440800-20445600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
26	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:20441400-20442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:20441800-20442800	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:20441800-20443200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:20441800-20447000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:20441800-20447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:20442000-20444200	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:20442000-20445600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:20442000-20446000	Weak transcription	Brain Germinal Matrix	brain
36	chr2:20442000-20446200	Weak transcription	Liver	Liver
37	chr2:20442000-20446200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:20442000-20446400	Weak transcription	NHDF-Ad	bronchial
39	chr2:20442000-20446400	Weak transcription	NHLF	lung
40	chr2:20442000-20446800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:20442000-20446800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:20442000-20446800	Weak transcription	Lung	lung
43	chr2:20442000-20447000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:20442000-20447000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:20442000-20447000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:20442000-20447000	Weak transcription	HUVEC	blood vessel
47	chr2:20442000-20447800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:20442000-20448800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:20442000-20449600	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:20442000-20450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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