Variant report

Variant	rs2072181
Chromosome Location	chr7:98998471-98998472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98989522-98998944	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:98992344-98999005	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:98998237-98998977	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:98986864-98999101	K562	blood:	n/a	n/a
5	POLR2A	chr7:98989622-98998764	K562	blood:	n/a	n/a
6	POLR2A	chr7:98988204-98999255	K562	blood:	n/a	n/a
7	POLR2A	chr7:98989700-98999127	A549	lung:	n/a	n/a
8	POLR2A	chr7:98992915-98999152	K562	blood:	n/a	n/a
9	POLR2A	chr7:98994309-98998944	GM12878	blood:	n/a	n/a
10	CTCF	chr7:98998460-98998610	RPTEC	kidney:	n/a	n/a
11	POLR2A	chr7:98998334-98998966	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:98994136-98998788	GM12891	blood:	n/a	n/a
13	POLR2A	chr7:98989552-98999005	GM12891	blood:	n/a	n/a
14	CTCF	chr7:98998460-98998610	HCT-116	colon:	n/a	n/a
15	POLR2A	chr7:98989640-98998952	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:98989671-98998973	K562	blood:	n/a	n/a
17	POLR2A	chr7:98989647-98998703	GM18505	blood:	n/a	n/a
18	POLR2A	chr7:98998289-98998703	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr7:98996246-98998595	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:98998346-98999174	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:98997814-98999256	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:98994273-98998895	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr7:98989468-98999129	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:98994293-98998942	K562	blood:	n/a	n/a
25	POLR2A	chr7:98998401-98998761	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr7:98996311-98998502	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:98994145-98998985	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:98992410-98999291	K562	blood:	n/a	n/a
29	POLR2A	chr7:98998323-98998697	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr7:98997801-98998880	GM12891	blood:	n/a	n/a
31	POLR2A	chr7:98994286-98998498	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:98997850-98998735	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98970545..98974719-chr7:98992685..98998543,7	MCF-7	breast:

No data

Variant related genes	Relation type
PDAP1	TF binding region
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10155966	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10236149	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10238965	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap]
rs10243678	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244158	0.80[AMR][1000 genomes]
rs10249167	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10254729	0.91[CEU][hapmap];0.83[JPT][hapmap]
rs10255399	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10258757	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10267346	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10270459	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270917	0.83[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10271049	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs10272998	0.91[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10274407	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10279308	0.91[CEU][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs1043466	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs10953286	0.88[GIH][hapmap]
rs10953287	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11762273	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11771702	0.83[CEU][hapmap]
rs11772470	0.83[JPT][hapmap]
rs11973460	0.85[AMR][1000 genomes]
rs11976018	0.91[ASW][hapmap];0.92[CEU][hapmap];0.80[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap]
rs11978089	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs12112936	0.83[CEU][hapmap]
rs12113440	0.83[CEU][hapmap]
rs13227795	0.80[AMR][1000 genomes]
rs13240600	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs17161695	0.83[CEU][hapmap]
rs17161698	0.85[CHD][hapmap];0.89[JPT][hapmap]
rs1980307	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs1985453	0.81[CHB][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs2003499	0.91[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs2057906	0.81[ASN][1000 genomes]
rs2107922	0.87[EUR][1000 genomes]
rs2240384	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs2269985	0.86[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2272168	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs2280600	0.83[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs2280601	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs2286162	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2404323	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28457808	0.81[ASN][1000 genomes]
rs28495024	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28820905	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3137	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs3764815	0.82[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs3779354	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs3801288	0.82[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3843540	0.83[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap]
rs4729532	0.92[ASW][hapmap];0.91[CEU][hapmap]
rs59986060	0.83[ASN][1000 genomes]
rs6943920	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6953476	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6955490	0.92[ASW][hapmap];0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6961634	0.83[CEU][hapmap];0.83[JPT][hapmap]
rs6962772	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs6972337	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6975099	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs733991	0.83[CEU][hapmap]
rs7794682	0.80[AMR][1000 genomes]
rs7794705	0.92[CEU][hapmap];0.89[JPT][hapmap]
rs883403	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs917154	0.91[ASW][hapmap];0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs9641253	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9768020	0.87[AMR][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98979400-99001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:98980400-99003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:98980800-99000600	Strong transcription	Dnd41	blood
4	chr7:98985600-99003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:98987000-99004200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:98990000-99002800	Strong transcription	GM12878-XiMat	blood
7	chr7:98991000-99001600	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr7:98991000-99001600	Strong transcription	Osteobl	bone
9	chr7:98991000-99002000	Strong transcription	NHEK	skin
10	chr7:98991000-99002600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr7:98991000-99002600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:98991400-99001800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:98991400-99001800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:98991400-99001800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:98991400-99002400	Strong transcription	Esophagus	oesophagus
16	chr7:98991400-99002400	Weak transcription	Right Atrium	heart
17	chr7:98991400-99004200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:98991600-98999000	Strong transcription	Primary B cells from cord blood	blood
19	chr7:98991600-99001400	Strong transcription	Placenta	Placenta
20	chr7:98991600-99001600	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:98991600-99001800	Strong transcription	NHLF	lung
22	chr7:98991600-99002000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:98991600-99002000	Strong transcription	Adipose Nuclei	Adipose
24	chr7:98991600-99002400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:98991600-99002800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:98991600-99003000	Strong transcription	Primary T cells from cord blood	blood
27	chr7:98991600-99003000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:98991600-99003400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:98991600-99003400	Weak transcription	Stomach Mucosa	stomach
30	chr7:98991600-99003400	Strong transcription	K562	blood
31	chr7:98991600-99005200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:98991800-98999000	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr7:98991800-99001400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:98991800-99001400	Strong transcription	Spleen	Spleen
35	chr7:98991800-99001800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:98991800-99002000	Strong transcription	Gastric	stomach
37	chr7:98991800-99002800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:98991800-99002800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:98991800-99003000	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr7:98991800-99003000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:98991800-99003000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:98991800-99003400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr7:98991800-99003400	Strong transcription	Fetal Intestine Small	intestine
44	chr7:98991800-99003600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:98991800-99003600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:98991800-99003600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:98991800-99003800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:98992000-99000600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:98992000-99000800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:98992000-99001400	Strong transcription	HSMMtube	muscle

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