Variant report

Variant	rs33999222
Chromosome Location	chr7:40080653-40080654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40080571..40083008-chr7:40084879..40087447,2	MCF-7	breast:
2	chr7:39987662..39991169-chr7:40080646..40083080,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10081308	0.86[EUR][1000 genomes]
rs10156182	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10233552	0.97[ASN][1000 genomes]
rs10234693	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10243593	0.80[EUR][1000 genomes]
rs10246466	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024680	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10252631	0.93[ASN][1000 genomes]
rs10254394	0.93[ASN][1000 genomes]
rs10267954	0.81[EUR][1000 genomes]
rs10268288	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10272641	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10275761	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1082028	0.99[EUR][1000 genomes]
rs1082030	0.91[EUR][1000 genomes]
rs10951624	0.93[ASN][1000 genomes]
rs10951625	0.91[ASN][1000 genomes]
rs11760739	0.82[EUR][1000 genomes]
rs11763047	0.81[EUR][1000 genomes]
rs11768464	0.81[EUR][1000 genomes]
rs11972983	0.93[ASN][1000 genomes]
rs11980745	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11983287	0.97[ASN][1000 genomes]
rs12334141	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12530776	0.82[EUR][1000 genomes]
rs12531761	0.97[ASN][1000 genomes]
rs12531774	0.92[ASN][1000 genomes]
rs12533272	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534074	0.89[EUR][1000 genomes]
rs12535524	0.83[EUR][1000 genomes]
rs12536190	0.92[ASN][1000 genomes]
rs12536726	0.95[ASN][1000 genomes]
rs12537125	0.93[ASN][1000 genomes]
rs12537320	0.90[ASN][1000 genomes]
rs1257698	0.97[ASN][1000 genomes]
rs1257699	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12666454	0.85[ASN][1000 genomes]
rs12669872	0.92[ASN][1000 genomes]
rs1403381	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1568645	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17171645	0.95[ASN][1000 genomes]
rs17171646	0.97[ASN][1000 genomes]
rs17496429	0.95[ASN][1000 genomes]
rs17496670	0.93[ASN][1000 genomes]
rs17496733	0.91[ASN][1000 genomes]
rs17538125	0.94[ASN][1000 genomes]
rs1874233	0.81[EUR][1000 genomes]
rs1881684	0.81[EUR][1000 genomes]
rs2015842	0.90[ASN][1000 genomes]
rs2024200	0.82[EUR][1000 genomes]
rs2052097	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2077124	0.93[ASN][1000 genomes]
rs2109339	0.94[ASN][1000 genomes]
rs2109340	0.89[EUR][1000 genomes]
rs2159488	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2159489	0.95[ASN][1000 genomes]
rs2302341	0.93[ASN][1000 genomes]
rs2329693	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28742222	0.87[EUR][1000 genomes]
rs3800799	0.81[ASN][1000 genomes]
rs3800802	0.88[ASN][1000 genomes]
rs3801238	0.91[ASN][1000 genomes]
rs3847019	0.90[ASN][1000 genomes]
rs3847020	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3847021	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3911836	0.90[ASN][1000 genomes]
rs3911889	0.90[ASN][1000 genomes]
rs4720347	0.93[ASN][1000 genomes]
rs4720348	0.96[ASN][1000 genomes]
rs4720349	0.93[ASN][1000 genomes]
rs4723925	0.92[ASN][1000 genomes]
rs4723927	0.97[ASN][1000 genomes]
rs4723928	0.97[ASN][1000 genomes]
rs4723929	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4723931	0.88[EUR][1000 genomes]
rs6462956	0.81[EUR][1000 genomes]
rs6952597	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6960111	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6963804	0.89[EUR][1000 genomes]
rs6966917	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6975853	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs731847	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs731848	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73394665	0.85[ASN][1000 genomes]
rs758696	0.93[ASN][1000 genomes]
rs773379	0.92[EUR][1000 genomes]
rs773381	0.93[EUR][1000 genomes]
rs773385	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs773386	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs773393	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773397	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs773402	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773403	0.99[EUR][1000 genomes]
rs773410	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs773411	0.95[ASN][1000 genomes]
rs773413	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs773414	0.99[EUR][1000 genomes]
rs773415	0.92[EUR][1000 genomes]
rs773424	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7779663	0.91[ASN][1000 genomes]
rs7790624	0.81[EUR][1000 genomes]
rs7797041	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7799846	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7810509	0.87[EUR][1000 genomes]
rs9639818	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9690188	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
17	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
2	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
3	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
4	chr7:40043600-40095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:40044400-40096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:40048000-40102400	Weak transcription	HMEC	breast
9	chr7:40048000-40102400	Weak transcription	NHEK	skin
10	chr7:40049000-40085600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:40049000-40085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:40049000-40096200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:40055600-40126400	Weak transcription	Aorta	Aorta
14	chr7:40055800-40082600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:40055800-40092200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:40055800-40097000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:40055800-40102400	Weak transcription	NHLF	lung
18	chr7:40055800-40110000	Weak transcription	Gastric	stomach
19	chr7:40055800-40127600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:40055800-40127600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:40056000-40092200	Weak transcription	Brain Substantia Nigra	brain
22	chr7:40056000-40097000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:40056000-40097800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:40056000-40097800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:40056000-40105400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:40056000-40112200	Weak transcription	HepG2	liver
27	chr7:40056200-40128600	Weak transcription	A549	lung
28	chr7:40058400-40101800	Weak transcription	Fetal Brain Male	brain
29	chr7:40058600-40126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:40058800-40081200	Weak transcription	Fetal Lung	lung
31	chr7:40059000-40125200	Weak transcription	Fetal Kidney	kidney
32	chr7:40059200-40084800	Weak transcription	Hela-S3	cervix
33	chr7:40059400-40092800	Weak transcription	HSMMtube	muscle
34	chr7:40060200-40088400	Weak transcription	HUVEC	blood vessel
35	chr7:40060200-40102400	Weak transcription	NHDF-Ad	bronchial
36	chr7:40060400-40098800	Weak transcription	Brain Anterior Caudate	brain
37	chr7:40064400-40084800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:40067200-40085400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:40067400-40088600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:40067400-40096000	Weak transcription	NH-A	brain
41	chr7:40067600-40096800	Weak transcription	Left Ventricle	heart
42	chr7:40067800-40095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:40068200-40081800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:40068200-40082400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:40070600-40104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:40071200-40085200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:40071400-40081600	Weak transcription	Pancreas	Pancrea
48	chr7:40072000-40082000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:40072000-40085200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:40072000-40085400	Weak transcription	Liver	Liver

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