Variant report

Variant	rs527941039
Chromosome Location	chr18:8618834-8618835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8513167..8514688-chr18:8617025..8619164,2	K562	blood:
2	chr18:8617866..8620402-chr18:8622519..8624289,2	MCF-7	breast:
3	chr18:8614072..8616072-chr18:8617527..8620570,3	MCF-7	breast:
4	chr18:8608406..8612122-chr18:8618832..8621107,4	K562	blood:
5	chr18:8608936..8610499-chr18:8616344..8619062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206418	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 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	chr18:8612200-8621600	Weak transcription	Thymus	Thymus
4	chr18:8612600-8620400	Weak transcription	Esophagus	oesophagus
5	chr18:8612600-8623600	Weak transcription	Gastric	stomach
6	chr18:8612600-8625400	Weak transcription	Aorta	Aorta
7	chr18:8612600-8625600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr18:8612800-8620600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr18:8613000-8619200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:8613000-8620400	Weak transcription	Pancreas	Pancrea
11	chr18:8613000-8623400	Weak transcription	Placenta	Placenta
12	chr18:8613000-8623800	Weak transcription	Fetal Thymus	thymus
13	chr18:8613400-8623400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr18:8613600-8621600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr18:8613800-8621200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:8614000-8619400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:8614000-8623400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:8614200-8620400	Weak transcription	Spleen	Spleen
19	chr18:8615200-8619800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr18:8615400-8623000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:8615400-8623800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:8615600-8619400	Weak transcription	Lung	lung
23	chr18:8615600-8622200	Weak transcription	Fetal Intestine Small	intestine
24	chr18:8615600-8623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr18:8615600-8625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:8615800-8621400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr18:8615800-8623600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr18:8615800-8623800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr18:8616000-8619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:8616000-8619000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:8616000-8619200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:8616000-8619200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr18:8616000-8619400	Weak transcription	Brain Angular Gyrus	brain
34	chr18:8616000-8620200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr18:8616000-8620400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr18:8616000-8620400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr18:8616000-8620800	Weak transcription	HUVEC	blood vessel
38	chr18:8616000-8621000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:8616000-8623400	Weak transcription	Hela-S3	cervix
40	chr18:8616200-8619000	Weak transcription	Brain Substantia Nigra	brain
41	chr18:8616200-8619000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr18:8616200-8620600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr18:8616200-8620800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:8616200-8620800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr18:8616200-8621600	Weak transcription	Fetal Intestine Large	intestine
46	chr18:8616200-8623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:8616200-8623400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr18:8616200-8623400	Weak transcription	A549	lung
49	chr18:8616400-8619000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr18:8616400-8619200	Weak transcription	Small Intestine	intestine

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