Variant report

Variant	rs28490171
Chromosome Location	chr7:21547424-21547425
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:21332671..21333636-chr7:21547000..21547910,2	K562	blood:
2	chr7:21294973..21295548-chr7:21546946..21547528,2	MCF-7	breast:
3	chr7:21546916..21547496-chr7:21806696..21807577,2	MCF-7	breast:
4	chr7:21301064..21301973-chr7:21546939..21548177,8	MCF-7	breast:
5	chr7:21295558..21297041-chr7:21546961..21547892,8	MCF-7	breast:
6	chr7:21300753..21302511-chr7:21546076..21548504,2	MCF-7	breast:
7	chr7:21301025..21301755-chr7:21547265..21547880,2	MCF-7	breast:
8	chr7:21547043..21547991-chr7:21806813..21807569,3	MCF-7	breast:

No data

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046561	1.00[EUR][1000 genomes]
rs10216269	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10228982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10232146	1.00[EUR][1000 genomes]
rs10233925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10238881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252594	1.00[EUR][1000 genomes]
rs10254442	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255890	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259756	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265366	1.00[EUR][1000 genomes]
rs10268107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10274755	0.96[AFR][1000 genomes]
rs10275955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279096	1.00[EUR][1000 genomes]
rs10282629	1.00[EUR][1000 genomes]
rs12674126	1.00[AMR][1000 genomes]
rs2158415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2285941	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28419471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439880	1.00[EUR][1000 genomes]
rs28528275	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580454	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28646037	1.00[EUR][1000 genomes]
rs28657649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661383	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55645999	1.00[EUR][1000 genomes]
rs55840028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55879742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55908918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57142662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57213984	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58223300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61043546	0.88[AFR][1000 genomes]
rs6946711	0.88[AFR][1000 genomes]
rs6947378	0.88[AFR][1000 genomes]
rs6953601	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6972886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973902	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73682368	1.00[EUR][1000 genomes]
rs73682608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685128	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685129	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73685130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685135	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73685144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
2	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:21516200-21556400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:21517000-21556000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:21520800-21552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:21521200-21552600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:21533200-21547600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:21533400-21550400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:21533600-21549800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:21536600-21549400	Weak transcription	Left Ventricle	heart
11	chr7:21536600-21550000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:21536600-21550600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:21536600-21557000	Weak transcription	Psoas Muscle	Psoas
14	chr7:21536800-21550800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:21536800-21550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:21536800-21552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:21537000-21547800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:21537400-21549000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:21538800-21555000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:21539200-21552600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:21539600-21554800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:21539600-21555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:21539800-21551600	Strong transcription	Primary B cells from cord blood	blood
24	chr7:21540600-21550800	Weak transcription	Fetal Lung	lung
25	chr7:21540600-21551600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:21540600-21554400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:21540800-21551400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:21541000-21554800	Weak transcription	Lung	lung
29	chr7:21541600-21547800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr7:21542000-21551200	Weak transcription	Fetal Kidney	kidney
31	chr7:21542200-21547600	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:21542200-21548200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:21542200-21552200	Weak transcription	Adipose Nuclei	Adipose
34	chr7:21543400-21548000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:21544000-21548200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:21544200-21550200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:21544600-21547600	Weak transcription	Ovary	ovary
38	chr7:21544600-21549400	Weak transcription	Pancreas	Pancrea
39	chr7:21545000-21550400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:21545200-21549400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr7:21545400-21550600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:21545400-21552600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:21545800-21549600	ZNF genes & repeats	Dnd41	blood
44	chr7:21545800-21550400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:21546000-21552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:21546200-21547600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:21546200-21548800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:21546200-21550600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:21546200-21552000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:21546800-21548000	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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