Variant report

Variant	rs1533220
Chromosome Location	chr1:211553799-211553800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211534598..211538715-chr1:211551456..211555118,6	K562	blood:
2	chr1:211552953..211554650-chr1:211554742..211556743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10732682	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10746434	0.82[EUR][1000 genomes]
rs10779554	0.92[EUR][1000 genomes]
rs1084977	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1084982	0.92[EUR][1000 genomes]
rs1084983	0.96[EUR][1000 genomes]
rs1084986	0.89[EUR][1000 genomes]
rs10863886	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10863887	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11804635	0.92[EUR][1000 genomes]
rs12057566	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap]
rs1533219	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1663521	1.00[EUR][1000 genomes]
rs1707247	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs1707252	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1707266	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1707267	0.92[EUR][1000 genomes]
rs1877476	0.96[EUR][1000 genomes]
rs1983259	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1983260	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2358215	0.88[EUR][1000 genomes]
rs2588658	0.85[EUR][1000 genomes]
rs2995846	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3123302	0.96[EUR][1000 genomes]
rs3125840	0.85[EUR][1000 genomes]
rs3855878	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4347268	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4370817	0.92[EUR][1000 genomes]
rs4556425	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951517	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951735	0.82[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951737	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951738	0.88[EUR][1000 genomes]
rs4951739	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4951740	0.88[EUR][1000 genomes]
rs6540675	0.92[EUR][1000 genomes]
rs6540676	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6540678	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6657779	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6661043	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6663627	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6671526	1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6672233	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6688682	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6692815	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73072839	0.92[EUR][1000 genomes]
rs7354876	0.82[MEX][hapmap]
rs7517135	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7527620	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs784366	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs784367	0.96[EUR][1000 genomes]
rs784368	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784370	1.00[EUR][1000 genomes]
rs784371	0.89[EUR][1000 genomes]
rs784373	0.96[EUR][1000 genomes]
rs784374	0.82[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784375	1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs784378	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs784380	1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[EUR][1000 genomes]
rs784381	1.00[EUR][1000 genomes]
rs784387	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs784388	0.96[EUR][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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211510600-211555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:211515000-211555000	Weak transcription	Hela-S3	cervix
3	chr1:211515000-211555800	Weak transcription	Esophagus	oesophagus
4	chr1:211521600-211555200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:211525000-211555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:211525400-211555000	Weak transcription	Fetal Lung	lung
7	chr1:211526600-211555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:211528800-211554600	Weak transcription	Psoas Muscle	Psoas
9	chr1:211530200-211555800	Weak transcription	Pancreas	Pancrea
10	chr1:211530400-211555200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:211530600-211555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:211533800-211554800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:211534600-211555800	Weak transcription	Gastric	stomach
14	chr1:211535000-211555000	Weak transcription	A549	lung
15	chr1:211535400-211555800	Weak transcription	Left Ventricle	heart
16	chr1:211539800-211555400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:211540800-211555400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:211543200-211555800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:211544200-211555600	Weak transcription	Colonic Mucosa	Colon
20	chr1:211545400-211555400	Weak transcription	HUVEC	blood vessel
21	chr1:211545800-211555200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:211546000-211555000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:211546200-211555400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:211547800-211555600	Weak transcription	Fetal Intestine Large	intestine
25	chr1:211548000-211555600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:211548000-211555600	Weak transcription	Ovary	ovary
27	chr1:211548200-211555400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:211548200-211555400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:211548200-211555400	Weak transcription	Right Atrium	heart
30	chr1:211549000-211555400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:211549200-211555200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:211549200-211555400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:211549200-211555400	Weak transcription	Stomach Mucosa	stomach
34	chr1:211549200-211555800	Weak transcription	Spleen	Spleen
35	chr1:211549400-211555200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:211549600-211555800	Weak transcription	Lung	lung
37	chr1:211549800-211555200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:211549800-211555600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:211550000-211555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:211550000-211555800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:211550200-211555200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:211550200-211555400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:211550200-211555600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:211550200-211555600	Weak transcription	Thymus	Thymus
45	chr1:211550400-211555000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:211550400-211555400	Weak transcription	Aorta	Aorta
47	chr1:211550400-211555400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:211550400-211555400	Weak transcription	Fetal Stomach	stomach
49	chr1:211550400-211555600	Weak transcription	Fetal Thymus	thymus
50	chr1:211550600-211555400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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