Variant report

Variant	rs58222677
Chromosome Location	chr7:99083315-99083316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99070856..99073411-chr7:99081785..99084342,2	MCF-7	breast:
2	chr7:99073817..99075318-chr7:99083117..99086079,2	MCF-7	breast:
3	chr7:99082773..99088647-chr7:99089038..99094596,7	MCF-7	breast:
4	chr7:99076847..99079587-chr7:99082808..99085715,3	MCF-7	breast:
5	chr7:99070549..99074806-chr7:99079713..99086160,8	K562	blood:
6	chr7:99070395..99072664-chr7:99081646..99084913,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198556	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1002172	0.84[EUR][1000 genomes]
rs1004387	0.83[EUR][1000 genomes]
rs10225314	0.84[EUR][1000 genomes]
rs10240199	0.81[ASN][1000 genomes]
rs10244158	0.84[ASN][1000 genomes]
rs10265385	0.86[ASN][1000 genomes]
rs1043466	0.84[ASN][1000 genomes]
rs10464604	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11539770	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11976018	0.81[ASN][1000 genomes]
rs12538826	0.92[ASN][1000 genomes]
rs13227795	0.84[ASN][1000 genomes]
rs13240600	0.84[ASN][1000 genomes]
rs13437771	0.84[ASN][1000 genomes]
rs17161652	0.92[EUR][1000 genomes]
rs17161677	1.00[EUR][1000 genomes]
rs17161698	1.00[EUR][1000 genomes]
rs17161766	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17161768	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17161769	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17161771	0.84[EUR][1000 genomes]
rs17161772	0.84[EUR][1000 genomes]
rs17161774	0.92[EUR][1000 genomes]
rs17161780	0.92[EUR][1000 genomes]
rs17161783	0.92[EUR][1000 genomes]
rs1851427	0.92[EUR][1000 genomes]
rs1980307	0.84[ASN][1000 genomes]
rs1985453	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057906	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2107705	1.00[EUR][1000 genomes]
rs2240385	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2269985	1.00[EUR][1000 genomes]
rs2272168	0.81[ASN][1000 genomes]
rs2280600	0.84[ASN][1000 genomes]
rs2280601	0.84[ASN][1000 genomes]
rs2404322	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3137	0.81[ASN][1000 genomes]
rs3764815	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779354	0.83[ASN][1000 genomes]
rs3800960	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3823812	0.92[EUR][1000 genomes]
rs3843540	0.81[ASN][1000 genomes]
rs45442295	0.92[EUR][1000 genomes]
rs45492098	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45540134	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45600842	0.92[EUR][1000 genomes]
rs45622743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646446	0.92[EUR][1000 genomes]
rs4646447	0.92[EUR][1000 genomes]
rs4646449	0.92[EUR][1000 genomes]
rs4646453	0.92[EUR][1000 genomes]
rs4646456	0.92[EUR][1000 genomes]
rs58024720	0.84[EUR][1000 genomes]
rs58421977	1.00[EUR][1000 genomes]
rs59986060	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60301933	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60865030	0.92[EUR][1000 genomes]
rs61159815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61337492	0.92[EUR][1000 genomes]
rs61402640	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61543997	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6962772	0.84[ASN][1000 genomes]
rs72494451	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72494452	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72494453	0.92[EUR][1000 genomes]
rs72494454	0.92[EUR][1000 genomes]
rs73709637	1.00[EUR][1000 genomes]
rs73709641	1.00[EUR][1000 genomes]
rs883403	0.82[ASN][1000 genomes]
rs940336	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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	chr7:99071200-99091000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:99071200-99091600	Weak transcription	Small Intestine	intestine
3	chr7:99071400-99090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:99071400-99090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:99071400-99090600	Weak transcription	Right Atrium	heart
6	chr7:99071400-99096200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:99071600-99090400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:99071600-99091200	Weak transcription	Fetal Heart	heart
9	chr7:99071800-99084400	Weak transcription	Fetal Brain Male	brain
10	chr7:99071800-99088600	Weak transcription	Brain Substantia Nigra	brain
11	chr7:99071800-99090400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:99071800-99090400	Weak transcription	Brain Angular Gyrus	brain
13	chr7:99071800-99090400	Weak transcription	Psoas Muscle	Psoas
14	chr7:99071800-99090600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:99071800-99091600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:99072000-99086400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:99072400-99083600	Weak transcription	Stomach Mucosa	stomach
18	chr7:99072600-99091200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:99073600-99084400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:99073800-99083800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:99073800-99085000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr7:99074000-99083600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:99074000-99084600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:99074000-99090400	Weak transcription	Colonic Mucosa	Colon
25	chr7:99076000-99084400	Weak transcription	Fetal Kidney	kidney
26	chr7:99076600-99085400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:99076600-99090400	Weak transcription	Lung	lung
28	chr7:99076800-99083400	Strong transcription	Fetal Stomach	stomach
29	chr7:99076800-99085200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:99076800-99089800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:99076800-99090000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:99076800-99090400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:99077000-99084000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:99077000-99085200	Strong transcription	Primary T cells from cord blood	blood
35	chr7:99077000-99089800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:99077000-99089800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:99077000-99090400	Weak transcription	Esophagus	oesophagus
38	chr7:99077000-99090600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:99077000-99091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:99077200-99090800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:99077200-99091200	Weak transcription	Hela-S3	cervix
42	chr7:99077400-99085000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:99077400-99085400	Strong transcription	Fetal Muscle Leg	muscle
44	chr7:99077400-99090000	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:99077600-99090400	Weak transcription	Fetal Lung	lung
46	chr7:99077800-99089600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:99078200-99089600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr7:99078200-99090400	Weak transcription	NHLF	lung
49	chr7:99078400-99084400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:99078400-99091200	Weak transcription	NHDF-Ad	bronchial

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