Variant report

Variant	rs6943920
Chromosome Location	chr7:99008415-99008416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:99008369-99008561	K562	blood:	n/a	n/a
2	POLR2A	chr7:99007979-99008937	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:99008237-99008687	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
2	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
3	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
4	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
5	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:

No data

Variant related genes	Relation type
BUD31	TF binding region
PDAP1	TF binding region
ENSG00000272647	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10155966	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10236149	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10238965	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs10243678	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10249167	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10254729	0.92[CEU][hapmap]
rs10255399	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258757	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10267346	0.86[AMR][1000 genomes]
rs10270459	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10270917	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10271049	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap]
rs10272998	0.91[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10274407	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10279308	0.91[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs1043466	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap]
rs10953286	1.00[YRI][hapmap]
rs10953287	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11762273	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11771702	0.84[CEU][hapmap]
rs11973460	0.84[AMR][1000 genomes]
rs11976018	0.91[ASW][hapmap];0.92[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap]
rs11978089	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12112936	0.84[CEU][hapmap]
rs12113440	0.84[CEU][hapmap]
rs13240600	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs17161695	0.84[CEU][hapmap]
rs17161698	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1980307	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs1985453	0.86[CHB][hapmap];0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs2003499	0.91[CEU][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs2072181	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]
rs2107922	0.86[EUR][1000 genomes]
rs2240384	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap]
rs2269985	0.81[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2272168	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs2280600	0.82[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs2280601	0.91[ASW][hapmap];0.92[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap]
rs2286162	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2404323	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2404324	0.92[AFR][1000 genomes]
rs28457808	0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28495024	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28820905	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3137	0.92[CEU][hapmap]
rs3764815	0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs3779354	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs3801288	0.91[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3843540	0.83[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap]
rs4729532	0.91[ASW][hapmap];0.91[CEU][hapmap];0.81[MKK][hapmap]
rs59986060	0.85[ASN][1000 genomes]
rs6953476	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6955490	0.91[ASW][hapmap];0.91[CEU][hapmap];0.81[MKK][hapmap]
rs6961634	0.84[CEU][hapmap]
rs6962772	0.91[ASW][hapmap];0.92[CEU][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap]
rs6972337	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6975099	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs733991	0.83[CEU][hapmap]
rs7794705	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs883403	0.92[CEU][hapmap]
rs917154	0.91[ASW][hapmap];0.91[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9641253	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9768020	0.86[AMR][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	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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99007400-99010600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:99007600-99008600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr7:99007600-99008600	Transcr. at gene 5' and 3'	K562	blood
5	chr7:99007600-99010000	Weak transcription	Ovary	ovary
6	chr7:99007600-99015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:99007800-99008600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr7:99007800-99008600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:99007800-99008600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:99007800-99008600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:99007800-99008600	Genic enhancers	Colon Smooth Muscle	Colon
12	chr7:99007800-99008600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
13	chr7:99007800-99008600	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
14	chr7:99007800-99008600	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr7:99007800-99008600	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:99007800-99008800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:99007800-99008800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:99007800-99008800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr7:99007800-99008800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr7:99007800-99012000	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr7:99007800-99024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:99008000-99008600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:99008000-99008600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:99008000-99008600	Genic enhancers	Primary T cells from cord blood	blood
25	chr7:99008000-99008600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:99008000-99008600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:99008000-99008600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:99008000-99008600	Genic enhancers	Adipose Nuclei	Adipose
29	chr7:99008000-99008600	Genic enhancers	Liver	Liver
30	chr7:99008000-99008600	Genic enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:99008000-99008600	Genic enhancers	Duodenum Mucosa	Duodenum
32	chr7:99008000-99008600	ZNF genes & repeats	Fetal Heart	heart
33	chr7:99008000-99008600	Genic enhancers	HMEC	breast
34	chr7:99008000-99008600	Genic enhancers	HUVEC	blood vessel
35	chr7:99008000-99008600	Genic enhancers	Osteobl	bone
36	chr7:99008000-99008800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:99008000-99008800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:99008000-99008800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:99008000-99008800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr7:99008000-99008800	Genic enhancers	Brain Anterior Caudate	brain
41	chr7:99008000-99008800	Genic enhancers	Brain Cingulate Gyrus	brain
42	chr7:99008000-99008800	Genic enhancers	Brain Germinal Matrix	brain
43	chr7:99008000-99008800	Genic enhancers	Left Ventricle	heart
44	chr7:99008000-99008800	Genic enhancers	HepG2	liver
45	chr7:99008000-99008800	Genic enhancers	NH-A	brain
46	chr7:99008000-99009000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:99008000-99009000	Genic enhancers	A549	lung
48	chr7:99008000-99009400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:99008000-99009400	Weak transcription	Stomach Mucosa	stomach
50	chr7:99008000-99009600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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