Variant report

Variant	rs7528178
Chromosome Location	chr1:67398118-67398119
allele	C/G
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	ARID3A	chr1:67397973-67398801	K562	blood:	n/a	n/a
2	CCNT2	chr1:67398046-67398362	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67389047..67393171-chr1:67393255..67399137,11	MCF-7	breast:
2	chr1:67385997..67392679-chr1:67394416..67400305,9	MCF-7	breast:

Variant related genes	Relation type
MIER1	TF binding region
ENSG00000152763	Chromatin interaction
ENSG00000198160	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11208970	0.91[AMR][1000 genomes]
rs11208975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069845	0.82[AFR][1000 genomes]
rs12077222	0.80[AMR][1000 genomes]
rs12083687	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12090768	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091598	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17097309	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2104414	0.91[AMR][1000 genomes]
rs9660023	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv947266	chr1:67358868-67399427	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67395000-67398800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:67395000-67401400	Active TSS	K562	blood
3	chr1:67395200-67398200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:67395200-67398400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:67395200-67398600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:67395200-67398600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:67395400-67398200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:67395400-67398200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr1:67395400-67399000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:67395400-67400200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:67395400-67401000	Active TSS	A549	lung
12	chr1:67395600-67398200	Active TSS	Liver	Liver
13	chr1:67395600-67399200	Active TSS	GM12878-XiMat	blood
14	chr1:67395600-67400000	Active TSS	Primary T cells fromperipheralblood	blood
15	chr1:67395600-67400000	Active TSS	HMEC	breast
16	chr1:67395600-67400400	Active TSS	NHLF	lung
17	chr1:67395600-67400600	Active TSS	Hela-S3	cervix
18	chr1:67396400-67398200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr1:67396600-67398800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
21	chr1:67396800-67398200	Active TSS	HepG2	liver
22	chr1:67396800-67398400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:67396800-67400000	Weak transcription	Left Ventricle	heart
24	chr1:67396800-67403000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:67396800-67403000	Weak transcription	Gastric	stomach
26	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:67396800-67414400	Weak transcription	Lung	lung
28	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
29	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
31	chr1:67397000-67398200	Flanking Active TSS	Fetal Lung	lung
32	chr1:67397000-67398400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:67397000-67399000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:67397000-67400400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:67397000-67400600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:67397000-67408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:67397000-67409200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:67397200-67398400	Flanking Active TSS	NH-A	brain
39	chr1:67397200-67398800	Flanking Active TSS	HUVEC	blood vessel
40	chr1:67397200-67400200	Flanking Active TSS	Osteobl	bone
41	chr1:67397200-67400400	Flanking Active TSS	Dnd41	blood
42	chr1:67397600-67398200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:67397600-67398200	Enhancers	Primary B cells from peripheral blood	blood
44	chr1:67397600-67398200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:67397600-67398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:67397600-67398200	Enhancers	HSMM	muscle
47	chr1:67397600-67398400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:67397600-67398400	Weak transcription	Brain Angular Gyrus	brain
49	chr1:67397600-67398400	Enhancers	Fetal Brain Male	brain
50	chr1:67397600-67398600	Active TSS	Rectal Mucosa Donor 29	rectum

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