Variant report

Variant	rs4799608
Chromosome Location	chr18:29503159-29503160
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29501674..29503497-chr18:29522527..29524041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153339	Chromatin interaction
ENSG00000263823	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10853416	0.81[AMR][1000 genomes]
rs35203717	0.81[AMR][1000 genomes]
rs3865397	0.80[AMR][1000 genomes]
rs5011500	0.81[AMR][1000 genomes]
rs7239951	0.80[AMR][1000 genomes]
rs8090615	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
2	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
6	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
7	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
8	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
9	chr18:29463400-29509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:29469000-29511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:29469600-29507000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:29472800-29512000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:29473800-29503400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr18:29474200-29510800	Weak transcription	NH-A	brain
15	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr18:29479600-29518600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:29480600-29511600	Weak transcription	Pancreas	Pancrea
18	chr18:29480600-29519400	Weak transcription	Spleen	Spleen
19	chr18:29480800-29511200	Weak transcription	Hela-S3	cervix
20	chr18:29481400-29511600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:29482000-29506000	Weak transcription	A549	lung
22	chr18:29482000-29511200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:29482200-29511200	Weak transcription	NHLF	lung
24	chr18:29482400-29511400	Weak transcription	Brain Hippocampus Middle	brain
25	chr18:29482400-29522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:29482600-29506800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:29482600-29521600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr18:29482800-29521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:29483200-29506600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr18:29483200-29511200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr18:29484400-29509200	Weak transcription	Gastric	stomach
32	chr18:29484400-29520800	Weak transcription	Fetal Brain Female	brain
33	chr18:29484800-29521000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr18:29485400-29509400	Weak transcription	Small Intestine	intestine
35	chr18:29485600-29506000	Weak transcription	Brain Substantia Nigra	brain
36	chr18:29485600-29506800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:29485600-29507800	Weak transcription	Colonic Mucosa	Colon
38	chr18:29485800-29508200	Weak transcription	Brain Germinal Matrix	brain
39	chr18:29487600-29506400	Weak transcription	Left Ventricle	heart
40	chr18:29487600-29508200	Weak transcription	Fetal Kidney	kidney
41	chr18:29487800-29511200	Weak transcription	HSMMtube	muscle
42	chr18:29488000-29519600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr18:29488200-29505800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr18:29488400-29506600	Weak transcription	HUVEC	blood vessel
45	chr18:29488400-29511000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr18:29488400-29511200	Weak transcription	Brain Anterior Caudate	brain
47	chr18:29490200-29511200	Weak transcription	NHDF-Ad	bronchial
48	chr18:29490400-29504000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr18:29490400-29519000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr18:29490800-29511200	Weak transcription	HMEC	breast

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