Variant report

Variant	rs66746701
Chromosome Location	chr8:2095248-2095249
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	chr8:2086567..2089007-chr8:2094171..2096918,2	K562	blood:
2	chr8:2083371..2086382-chr8:2092735..2096107,4	K562	blood:

Variant related genes	Relation type
ENSG00000036448	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10099055	0.93[ASN][1000 genomes]
rs10103035	0.93[ASN][1000 genomes]
rs10503170	0.99[ASN][1000 genomes]
rs1063523	0.82[ASN][1000 genomes]
rs13248197	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13260459	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13264265	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264810	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265701	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13267188	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270863	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13271873	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13272507	0.98[ASN][1000 genomes]
rs13275233	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17684913	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17752076	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17752149	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17752155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752179	0.84[ASN][1000 genomes]
rs17854780	0.84[ASN][1000 genomes]
rs2280905	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28788232	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28862980	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28885149	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28891159	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34004096	0.97[ASN][1000 genomes]
rs34039811	0.89[ASN][1000 genomes]
rs34547976	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35077455	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35241794	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35366685	0.97[ASN][1000 genomes]
rs35402008	0.98[ASN][1000 genomes]
rs35862926	0.99[ASN][1000 genomes]
rs3779814	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3779816	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3779818	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3779819	0.87[ASN][1000 genomes]
rs3824167	0.97[ASN][1000 genomes]
rs4262342	0.87[ASN][1000 genomes]
rs4363227	0.86[ASN][1000 genomes]
rs4535761	0.86[ASN][1000 genomes]
rs4568639	0.80[ASN][1000 genomes]
rs4599837	0.87[ASN][1000 genomes]
rs5023999	0.88[ASN][1000 genomes]
rs55806773	0.85[ASN][1000 genomes]
rs55955938	0.86[ASN][1000 genomes]
rs62480003	0.86[ASN][1000 genomes]
rs62501379	0.96[ASN][1000 genomes]
rs62501403	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66538145	0.84[ASN][1000 genomes]
rs67313412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67371404	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67489990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67769214	0.96[ASN][1000 genomes]
rs68035375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68053310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68123268	0.96[ASN][1000 genomes]
rs71499062	0.96[ASN][1000 genomes]
rs73169419	0.82[ASN][1000 genomes]
rs73169431	0.84[ASN][1000 genomes]
rs73169432	0.86[ASN][1000 genomes]
rs73169434	0.86[ASN][1000 genomes]
rs73169439	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73169446	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73169447	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73169450	0.99[ASN][1000 genomes]
rs73169451	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2076000-2109600	Weak transcription	Right Atrium	heart
2	chr8:2076400-2097800	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:2076600-2096800	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:2079400-2095800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:2080800-2096800	Strong transcription	Left Ventricle	heart
6	chr8:2086200-2096800	Weak transcription	Spleen	Spleen
7	chr8:2087200-2095400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:2087400-2095400	Enhancers	Primary T cells from cord blood	blood
9	chr8:2089400-2095400	Weak transcription	Ovary	ovary
10	chr8:2090200-2096400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:2090200-2096600	Weak transcription	Psoas Muscle	Psoas
12	chr8:2090400-2096400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:2091000-2095400	Enhancers	Fetal Thymus	thymus
14	chr8:2091000-2095600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:2092400-2095400	Enhancers	Fetal Brain Male	brain
16	chr8:2093000-2095400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:2093000-2096600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:2093000-2103400	Weak transcription	Pancreas	Pancrea
19	chr8:2093000-2107200	Weak transcription	Gastric	stomach
20	chr8:2093200-2098400	Weak transcription	Fetal Stomach	stomach
21	chr8:2093600-2095400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:2093600-2095400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:2093600-2096200	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:2093800-2095400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:2093800-2095600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:2093800-2096200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:2093800-2096200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:2094000-2122400	Weak transcription	Right Ventricle	heart
29	chr8:2095000-2095600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:2095000-2096200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr8:2095200-2096400	Weak transcription	Brain Anterior Caudate	brain

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