Variant report

Variant	rs7522932
Chromosome Location	chr1:193062184-193062185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:193061592-193063688	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:193062080-193062362	K562	blood:	n/a	n/a
3	POLR2A	chr1:193061653-193064028	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:193057564-193064280	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193060114..193062197-chr1:193073397..193075467,2	MCF-7	breast:
2	chr1:193055245..193057121-chr1:193061980..193064153,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272579	TF binding region
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1536100	0.88[ASW][hapmap];0.91[LWK][hapmap];0.85[YRI][hapmap]
rs16835169	0.86[YRI][hapmap]
rs16835204	0.86[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap]
rs34147192	0.80[AFR][1000 genomes]
rs34552619	0.85[AMR][1000 genomes]
rs34615282	0.85[AMR][1000 genomes]
rs55842934	0.85[AMR][1000 genomes]
rs56199152	0.85[AMR][1000 genomes]
rs58479385	0.85[AMR][1000 genomes]
rs6665739	0.86[YRI][hapmap]
rs6665751	0.86[YRI][hapmap]
rs6671794	0.85[AMR][1000 genomes]
rs6682435	1.00[MEX][hapmap]
rs6687899	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs74130911	0.85[AMR][1000 genomes]
rs74130912	0.85[AMR][1000 genomes]
rs74130913	0.85[AMR][1000 genomes]
rs74130914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130916	0.85[AMR][1000 genomes]
rs74130917	0.85[AMR][1000 genomes]
rs74130918	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518409	0.86[YRI][hapmap]
rs7553830	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs7556154	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap]
rs7556241	0.89[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap]
rs842806	1.00[MEX][hapmap]
rs842808	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:193047000-193062600	Weak transcription	Small Intestine	intestine
5	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
6	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
8	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
9	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
11	chr1:193051400-193066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:193052200-193066600	Weak transcription	Gastric	stomach
13	chr1:193052200-193067200	Weak transcription	Pancreas	Pancrea
14	chr1:193052800-193066600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:193052800-193068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:193052800-193068600	Weak transcription	Fetal Kidney	kidney
17	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:193053000-193062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:193053000-193063000	Weak transcription	HSMMtube	muscle
20	chr1:193053000-193063200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:193053000-193063200	Weak transcription	Fetal Stomach	stomach
22	chr1:193053000-193067200	Weak transcription	Lung	lung
23	chr1:193053000-193067400	Weak transcription	NHEK	skin
24	chr1:193053000-193068600	Weak transcription	Spleen	Spleen
25	chr1:193053000-193069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
28	chr1:193053200-193063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:193053200-193063200	Weak transcription	Aorta	Aorta
30	chr1:193053200-193066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
32	chr1:193053600-193063400	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:193053800-193063200	Weak transcription	Primary T cells from cord blood	blood
35	chr1:193054000-193063200	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:193054000-193063600	Weak transcription	Fetal Brain Female	brain
37	chr1:193054000-193065600	Weak transcription	HepG2	liver
38	chr1:193054000-193068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:193054000-193068600	Weak transcription	Thymus	Thymus
40	chr1:193054200-193062200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:193054200-193063000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:193054200-193065000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:193054200-193065000	Weak transcription	Brain Substantia Nigra	brain
44	chr1:193054200-193067200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:193054200-193072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:193054200-193072600	Weak transcription	Colonic Mucosa	Colon
47	chr1:193054200-193073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:193054200-193073000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:193054400-193062200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:193054400-193062600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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