Variant report

Variant	rs1043400
Chromosome Location	chr2:20449174-20449175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20448063-20449423	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:20449114-20449275	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:20448645-20449343	K562	blood:	n/a	n/a
4	POLR2A	chr2:20448872-20449250	K562	blood:	n/a	n/a
5	POLR2A	chr2:20448714-20449203	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:20448590-20449348	A549	lung:	n/a	n/a
7	POLR2A	chr2:20448607-20449413	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:20441943-20449974	K562	blood:	n/a	n/a
9	POLR2A	chr2:20446318-20449896	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:20448753-20449474	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:20449117-20449294	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:20448739-20449265	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:20448846-20449211	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:20449118-20449277	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:20448910-20449294	K562	blood:	n/a	n/a
16	POLR2A	chr2:20449123-20449187	K562	blood:	n/a	n/a
17	POLR2A	chr2:20446698-20449363	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:20448557-20449362	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:20448812-20449275	HL-60	blood:	n/a	n/a
20	FOSL2	chr2:20448768-20449235	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:20448704-20449200	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr2:20448932-20449347	HL-60	blood:	n/a	n/a
23	POLR2A	chr2:20448711-20449227	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20444231..20447122-chr2:20447752..20449794,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-113P	TF binding region
ENSG00000238735	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10175853	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10187080	0.91[ASN][1000 genomes]
rs10192042	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[ASN][1000 genomes]
rs10206974	0.85[ASN][1000 genomes]
rs10460445	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460449	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460450	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10460451	0.86[ASN][1000 genomes]
rs10495704	0.95[CEU][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap]
rs10856797	0.91[ASN][1000 genomes]
rs1106111	0.82[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap]
rs11096650	0.80[EUR][1000 genomes]
rs11096654	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11096655	0.80[JPT][hapmap]
rs11096659	0.84[EUR][1000 genomes]
rs11888357	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11895228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11896241	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11898408	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11900127	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11902769	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903745	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12373772	0.84[CEU][hapmap]
rs12373819	0.84[CEU][hapmap]
rs12464428	0.82[CEU][hapmap]
rs12465832	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472685	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12473500	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12474897	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12478265	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13393733	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17612703	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17670898	0.81[MEX][hapmap]
rs2002090	0.82[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap]
rs2072464	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080190	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2110410	0.91[CEU][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2348703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2820	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs34678899	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771236	0.82[CEU][hapmap]
rs3771238	0.81[CEU][hapmap]
rs3771239	0.82[CEU][hapmap]
rs3771240	0.86[MEX][hapmap]
rs3796066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821218	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62123442	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6748274	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785217	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785218	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785278	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785282	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72785295	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72785297	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785298	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785300	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785301	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787406	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787409	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72787411	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72787415	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787433	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787499	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72787501	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72788905	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72788906	0.80[EUR][1000 genomes]
rs741188	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7558385	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558833	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7563245	0.84[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7579571	0.84[EUR][1000 genomes]
rs7582642	0.88[ASN][1000 genomes]
rs7585590	0.95[MEX][hapmap]
rs7595266	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306890	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9306891	0.87[ASN][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	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	nsv524207	chr2:20448561-20503436	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 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	chr2:20433000-20450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:20433000-20451200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:20436600-20452600	Weak transcription	Gastric	stomach
4	chr2:20437000-20453000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:20439800-20450200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:20440600-20451000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:20440600-20452600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:20440800-20452200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:20440800-20452600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:20441400-20453000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:20442000-20449600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:20442000-20450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:20442000-20450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:20442000-20450600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:20442000-20451000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:20442000-20451200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:20442000-20452600	Weak transcription	Fetal Heart	heart
18	chr2:20442000-20453400	Weak transcription	Pancreas	Pancrea
19	chr2:20442000-20491000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:20442200-20451400	Weak transcription	K562	blood
21	chr2:20442200-20452600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:20442800-20455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:20442800-20474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:20443000-20449600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:20443000-20451400	Weak transcription	HSMMtube	muscle
26	chr2:20443000-20456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:20443200-20451600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:20444200-20449200	Strong transcription	Fetal Muscle Leg	muscle
29	chr2:20444200-20452600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:20444200-20457200	Strong transcription	A549	lung
31	chr2:20444400-20489000	Weak transcription	Stomach Mucosa	stomach
32	chr2:20444600-20452600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:20444800-20452800	Weak transcription	Psoas Muscle	Psoas
34	chr2:20445000-20451400	Weak transcription	Small Intestine	intestine
35	chr2:20445200-20452600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:20445200-20452800	Weak transcription	Ovary	ovary
37	chr2:20445400-20450400	Strong transcription	Primary T cells from cord blood	blood
38	chr2:20445400-20457000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:20445400-20463600	Strong transcription	Fetal Thymus	thymus
40	chr2:20445400-20473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:20445600-20449600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:20445600-20453000	Weak transcription	Aorta	Aorta
43	chr2:20445600-20456600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:20445800-20450200	Weak transcription	Fetal Brain Male	brain
45	chr2:20445800-20456600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:20445800-20463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:20445800-20465400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:20446000-20449400	Strong transcription	Left Ventricle	heart
49	chr2:20446000-20463400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:20446000-20464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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