Variant report

Variant	rs11975190
Chromosome Location	chr7:100009204-100009205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99997615..100000577-chr7:100006796..100009409,2	MCF-7	breast:
2	chr7:100007931..100010331-chr7:100168836..100171505,2	K562	blood:
3	chr7:100008182..100011110-chr7:100012762..100014758,2	K562	blood:
4	chr7:99781434..99783294-chr7:100007370..100009844,2	K562	blood:
5	chr7:100008202..100010770-chr7:100012132..100015030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205307	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11980405	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11982656	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3958529	1.00[EUR][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	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
rs11975190	STAG3	cis	lymphoblastoid	seeQTL

Chromatin state (count:28 , 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	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
4	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99996200-100013800	Weak transcription	Fetal Stomach	stomach
7	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
8	chr7:99996600-100016800	Weak transcription	Brain Angular Gyrus	brain
9	chr7:99996600-100017000	Weak transcription	Adipose Nuclei	Adipose
10	chr7:99997000-100016000	Weak transcription	Ovary	ovary
11	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
12	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
14	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
15	chr7:100000200-100013000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:100000200-100016800	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:100000200-100025400	Weak transcription	Liver	Liver
18	chr7:100001400-100009800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:100002800-100013200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:100002800-100025400	Weak transcription	Brain Anterior Caudate	brain
21	chr7:100004200-100010800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:100005200-100010000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:100005400-100010600	Weak transcription	GM12878-XiMat	blood
24	chr7:100005400-100024800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:100006600-100011400	Weak transcription	Fetal Thymus	thymus
26	chr7:100006800-100010800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:100008800-100010600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr7:100009000-100010600	Weak transcription	Primary B cells from cord blood	blood

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