Variant report

Variant	rs16949034
Chromosome Location	chr18:44682023-44682024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44674746..44679194-chr18:44680542..44685924,9	K562	blood:

Variant related genes	Relation type
ENSG00000167220	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1347340	1.00[GIH][hapmap]
rs34083574	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs57366850	0.90[AMR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909613	chr18:44644530-44690107	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr18:44677600-44685400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:44677600-44700200	Weak transcription	Aorta	Aorta
3	chr18:44677800-44682800	Weak transcription	Colonic Mucosa	Colon
4	chr18:44677800-44684800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:44677800-44685600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:44677800-44686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44677800-44686600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:44677800-44686600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:44677800-44689800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:44677800-44693400	Weak transcription	Gastric	stomach
11	chr18:44677800-44698200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:44677800-44699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr18:44677800-44700400	Weak transcription	Spleen	Spleen
14	chr18:44677800-44701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:44677800-44701000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:44677800-44701000	Weak transcription	A549	lung
17	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
18	chr18:44678000-44682200	Weak transcription	Fetal Brain Female	brain
19	chr18:44678000-44682800	Weak transcription	Brain Substantia Nigra	brain
20	chr18:44678000-44683400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr18:44678000-44684400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:44678000-44687000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr18:44678000-44689200	Weak transcription	GM12878-XiMat	blood
24	chr18:44678000-44699600	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:44678000-44700400	Weak transcription	Small Intestine	intestine
26	chr18:44678000-44700800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr18:44678000-44701000	Weak transcription	Fetal Stomach	stomach
28	chr18:44678200-44683400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:44678200-44684200	Weak transcription	Fetal Brain Male	brain
30	chr18:44678200-44685400	Weak transcription	Hela-S3	cervix
31	chr18:44678200-44685600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr18:44678200-44689200	Weak transcription	NHEK	skin
33	chr18:44678200-44689800	Weak transcription	HSMMtube	muscle
34	chr18:44678200-44690800	Weak transcription	Fetal Intestine Small	intestine
35	chr18:44678200-44692400	Weak transcription	Thymus	Thymus
36	chr18:44678200-44692600	Weak transcription	NHLF	lung
37	chr18:44678200-44700200	Weak transcription	Brain Angular Gyrus	brain
38	chr18:44678200-44700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr18:44678200-44701000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:44678200-44701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:44678200-44701200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:44678400-44683800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:44678400-44685800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr18:44678400-44689800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr18:44678400-44690000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr18:44678400-44692200	Weak transcription	Right Ventricle	heart
47	chr18:44678400-44695400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr18:44678400-44700000	Weak transcription	Psoas Muscle	Psoas
49	chr18:44678400-44700800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:44678400-44700800	Weak transcription	Lung	lung

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