Variant report

Variant	rs74101812
Chromosome Location	chr1:95090195-95090196
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	POLR2A	chr1:95090063-95090258	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95087249..95089894-chr1:95090024..95092198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235565	TF binding region
ENSG00000235565	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2893271	1.00[AFR][1000 genomes]
rs74101810	1.00[AFR][1000 genomes]
rs74101811	1.00[AFR][1000 genomes]
rs74101813	1.00[AFR][1000 genomes]
rs74101817	1.00[AFR][1000 genomes]
rs74101818	1.00[AFR][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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1001230	chr1:95085184-95108531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95084800-95090200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95085000-95090200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:95085000-95090600	Enhancers	HMEC	breast
4	chr1:95085200-95090600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:95085200-95090600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:95085200-95090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:95086200-95090600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:95086400-95090200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:95086600-95091200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:95087000-95090200	Enhancers	NHEK	skin
11	chr1:95087800-95091000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:95088000-95090600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:95088000-95092000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:95088200-95090200	Enhancers	Fetal Stomach	stomach
15	chr1:95088200-95091000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:95088200-95091200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:95088200-95091600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:95088600-95090600	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:95088800-95090400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:95088800-95091600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:95088800-95094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:95089200-95091200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:95089200-95091400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:95089400-95090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:95089600-95095200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:95089800-95090400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:95089800-95093200	Weak transcription	Fetal Heart	heart
28	chr1:95089800-95094200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:95089800-95100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:95089800-95100400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:95090000-95090200	Active TSS	Hela-S3	cervix
32	chr1:95090000-95090400	Weak transcription	Placenta	Placenta
33	chr1:95090000-95102800	Weak transcription	H9 Cell Line	embryonic stem cell

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