Variant report

Variant	rs7538547
Chromosome Location	chr1:62206968-62206969
allele	C/T
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	GTF3C2	chr1:62206704-62207338	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
2	chr1:62188914..62195188-chr1:62202056..62212232,19	MCF-7	breast:
3	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
INADL	TF binding region
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11207825	1.00[EUR][1000 genomes]
rs1151779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074912	1.00[EUR][1000 genomes]
rs12075300	1.00[EUR][1000 genomes]
rs1290441	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3422069	chr1:62206889-62209737	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62191400-62207400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:62202200-62207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:62202200-62207200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:62202200-62207200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:62202400-62207200	Weak transcription	Primary T cells from cord blood	blood
7	chr1:62202400-62207200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:62202400-62207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:62202600-62207200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:62202800-62207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:62204800-62207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:62205600-62207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:62206200-62207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:62206200-62207400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:62206400-62207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:62206400-62207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:62206400-62207200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr1:62206400-62207200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:62206400-62207600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:62206600-62207400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:62206600-62207600	Flanking Active TSS	Hela-S3	cervix
23	chr1:62206800-62207000	Enhancers	Lung	lung
24	chr1:62206800-62207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:62206800-62207200	Enhancers	Esophagus	oesophagus
26	chr1:62206800-62207200	Enhancers	Pancreas	Pancrea
27	chr1:62206800-62207200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:62206800-62207400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:62206800-62207400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:62206800-62207400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:62206800-62207600	Enhancers	Small Intestine	intestine
32	chr1:62206800-62208000	Bivalent/Poised TSS	HepG2	liver

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