Variant report

Variant	rs3823644
Chromosome Location	chr7:99985919-99985920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99968890..99971815-chr7:99985035..99986806,2	K562	blood:
2	chr7:99983658..99989026-chr7:100025931..100030707,8	MCF-7	breast:
3	chr7:99974887..99976892-chr7:99985893..99988252,2	K562	blood:
4	chr7:99983162..99986044-chr7:99986515..99990013,3	MCF-7	breast:
5	chr7:99953256..99956162-chr7:99984364..99987051,2	K562	blood:
6	chr7:99985239..99987634-chr7:100026126..100029125,2	MCF-7	breast:
7	chr7:99981107..99982701-chr7:99984979..99987191,2	K562	blood:

Variant related genes	Relation type
ENSG00000085514	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000121716	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3815257	1.00[TSI][hapmap]

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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3823644	STAG3	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:99972600-99996000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:99972800-99987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:99972800-99994800	Weak transcription	Spleen	Spleen
7	chr7:99973000-99999400	Weak transcription	Brain Anterior Caudate	brain
8	chr7:99973600-99987400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:99976200-99998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:99977000-99989800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99981800-99987400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:99982800-99987400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:99983200-99987200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:99985000-99988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:99985200-99987800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:99985400-99986800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:99985400-99987400	Weak transcription	Pancreas	Pancrea
18	chr7:99985400-99988000	Weak transcription	Fetal Heart	heart
19	chr7:99985400-99989600	Weak transcription	GM12878-XiMat	blood
20	chr7:99985400-99994800	Weak transcription	Ovary	ovary
21	chr7:99985600-99989600	Strong transcription	Primary monocytes fromperipheralblood	blood

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