Variant report

Variant	rs2044876
Chromosome Location	chr11:45396350-45396351
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45391422..45393195-chr11:45394967..45396876,2	K562	blood:

Variant related genes	Relation type
ENSG00000255267	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1017615	0.87[CEU][hapmap]
rs7950659	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv467869	chr11:45389225-45415035	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv554185	chr11:45389225-45415035	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2044876	RP11-430H10.1	cis	Thyroid	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45393400-45396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:45393800-45397000	Enhancers	Fetal Thymus	thymus
3	chr11:45393800-45406200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:45394200-45406200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:45394400-45396400	Weak transcription	Fetal Brain Male	brain
6	chr11:45394400-45403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:45395400-45396600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:45395400-45397000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:45395400-45397200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:45395400-45397400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:45395600-45397400	Enhancers	Primary T cells from cord blood	blood
12	chr11:45395600-45397600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:45395600-45397600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:45395800-45396600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr11:45395800-45396600	Enhancers	Thymus	Thymus
16	chr11:45395800-45396800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:45395800-45397000	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:45395800-45397000	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:45395800-45397000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:45395800-45397000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:45395800-45397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:45395800-45397000	Enhancers	Fetal Muscle Leg	muscle
23	chr11:45395800-45397400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:45396000-45396600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:45396000-45396800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:45396000-45397000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:45396000-45397200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:45396200-45396600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:45396200-45396600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:45396200-45396600	Bivalent Enhancer	HepG2	liver

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