Variant report

Variant	rs1250161
Chromosome Location	chr18:8617582-8617583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8615811..8618362-chr18:8979666..8982599,2	K562	blood:
2	chr18:8616144..8618233-chr18:8705323..8707397,3	MCF-7	breast:
3	chr18:8513167..8514688-chr18:8617025..8619164,2	K562	blood:
4	chr18:8614072..8616072-chr18:8617527..8620570,3	MCF-7	breast:
5	chr18:8607943..8612089-chr18:8612621..8617840,9	K562	blood:
6	chr18:8608936..8610499-chr18:8616344..8619062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206418	Chromatin interaction
ENSG00000168502	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11876907	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs321654	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55906430	1.00[ASN][1000 genomes]
rs57834182	0.98[EUR][1000 genomes]
rs7235110	0.98[EUR][1000 genomes]
rs7237512	0.96[ASN][1000 genomes]
rs72936887	0.96[ASN][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	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8610600-8634400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:8611600-8620400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:8611800-8618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:8612200-8621600	Weak transcription	Thymus	Thymus
5	chr18:8612600-8620400	Weak transcription	Esophagus	oesophagus
6	chr18:8612600-8623600	Weak transcription	Gastric	stomach
7	chr18:8612600-8625400	Weak transcription	Aorta	Aorta
8	chr18:8612600-8625600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:8612800-8620600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr18:8613000-8619200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:8613000-8620400	Weak transcription	Pancreas	Pancrea
12	chr18:8613000-8623400	Weak transcription	Placenta	Placenta
13	chr18:8613000-8623800	Weak transcription	Fetal Thymus	thymus
14	chr18:8613400-8623400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr18:8613600-8621600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr18:8613800-8621200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:8614000-8619400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:8614000-8623400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr18:8614200-8620400	Weak transcription	Spleen	Spleen
20	chr18:8615000-8618200	Strong transcription	Primary T cells from cord blood	blood
21	chr18:8615200-8618000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:8615200-8619800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr18:8615400-8623000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr18:8615400-8623800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:8615600-8617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:8615600-8619400	Weak transcription	Lung	lung
27	chr18:8615600-8622200	Weak transcription	Fetal Intestine Small	intestine
28	chr18:8615600-8623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:8615600-8625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:8615800-8618200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr18:8615800-8618800	Weak transcription	Liver	Liver
32	chr18:8615800-8621400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr18:8615800-8623600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:8615800-8623800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:8616000-8617800	Enhancers	Fetal Brain Male	brain
36	chr18:8616000-8618200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr18:8616000-8618200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr18:8616000-8618800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr18:8616000-8619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:8616000-8619000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:8616000-8619200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr18:8616000-8619200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr18:8616000-8619400	Weak transcription	Brain Angular Gyrus	brain
44	chr18:8616000-8620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr18:8616000-8620400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr18:8616000-8620400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:8616000-8620800	Weak transcription	HUVEC	blood vessel
48	chr18:8616000-8621000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:8616000-8623400	Weak transcription	Hela-S3	cervix
50	chr18:8616200-8617600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell

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