Variant report

Variant	rs73954244
Chromosome Location	chr18:44690000-44690001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44687727..44690082-chr18:44690575..44692828,2	K562	blood:
2	chr18:44687665..44690240-chr18:44700822..44702824,2	MCF-7	breast:
3	chr18:44675461..44681646-chr18:44682135..44691602,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167220	Chromatin interaction
ENSG00000134049	Chromatin interaction
ENSG00000267228	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs14524	1.00[AFR][1000 genomes]
rs55887101	1.00[AFR][1000 genomes]
rs56267001	0.85[AFR][1000 genomes]
rs56275159	0.85[AFR][1000 genomes]
rs56394933	0.85[AFR][1000 genomes]
rs57907962	0.85[AFR][1000 genomes]
rs58475024	1.00[AFR][1000 genomes]
rs61366727	0.85[AFR][1000 genomes]
rs61546346	0.85[AFR][1000 genomes]
rs73954224	0.85[AFR][1000 genomes]
rs73954226	0.85[AFR][1000 genomes]
rs73954227	0.85[AFR][1000 genomes]
rs73954228	0.85[AFR][1000 genomes]
rs73954235	0.85[AFR][1000 genomes]
rs73954236	0.85[AFR][1000 genomes]
rs73954240	0.85[AFR][1000 genomes]
rs73954241	0.85[AFR][1000 genomes]
rs73954242	1.00[AFR][1000 genomes]
rs73954245	1.00[AFR][1000 genomes]
rs73954246	0.84[AFR][1000 genomes]
rs73954250	1.00[AFR][1000 genomes]
rs73954257	1.00[AFR][1000 genomes]
rs73954261	1.00[AFR][1000 genomes]
rs73954289	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3412252	chr18:44684003-44711534	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44677600-44700200	Weak transcription	Aorta	Aorta
2	chr18:44677800-44693400	Weak transcription	Gastric	stomach
3	chr18:44677800-44698200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:44677800-44699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:44677800-44700400	Weak transcription	Spleen	Spleen
6	chr18:44677800-44701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:44677800-44701000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:44677800-44701000	Weak transcription	A549	lung
9	chr18:44677800-44701800	Weak transcription	Esophagus	oesophagus
10	chr18:44678000-44699600	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:44678000-44700400	Weak transcription	Small Intestine	intestine
12	chr18:44678000-44700800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr18:44678000-44701000	Weak transcription	Fetal Stomach	stomach
14	chr18:44678200-44690800	Weak transcription	Fetal Intestine Small	intestine
15	chr18:44678200-44692400	Weak transcription	Thymus	Thymus
16	chr18:44678200-44692600	Weak transcription	NHLF	lung
17	chr18:44678200-44700200	Weak transcription	Brain Angular Gyrus	brain
18	chr18:44678200-44700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:44678200-44701000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:44678200-44701200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44678200-44701200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr18:44678400-44690000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr18:44678400-44692200	Weak transcription	Right Ventricle	heart
24	chr18:44678400-44695400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr18:44678400-44700000	Weak transcription	Psoas Muscle	Psoas
26	chr18:44678400-44700800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:44678400-44700800	Weak transcription	Lung	lung
28	chr18:44678600-44691200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:44678600-44699000	Weak transcription	Dnd41	blood
30	chr18:44681200-44692200	Weak transcription	Ovary	ovary
31	chr18:44681200-44699000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr18:44681200-44699600	Weak transcription	Fetal Muscle Leg	muscle
33	chr18:44681200-44699600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:44681200-44699800	Weak transcription	Left Ventricle	heart
35	chr18:44681400-44699600	Weak transcription	Primary T cells from cord blood	blood
36	chr18:44681600-44700200	Weak transcription	Fetal Kidney	kidney
37	chr18:44681800-44690800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr18:44681800-44692800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr18:44681800-44699400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr18:44681800-44699800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:44681800-44700200	Weak transcription	HSMM	muscle
42	chr18:44681800-44700800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr18:44681800-44700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:44681800-44700800	Weak transcription	Placenta	Placenta
45	chr18:44681800-44701000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr18:44681800-44701000	Weak transcription	Fetal Thymus	thymus
47	chr18:44681800-44701200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr18:44682000-44691600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr18:44682400-44700200	Weak transcription	Liver	Liver
50	chr18:44682400-44701000	Weak transcription	Rectal Mucosa Donor 29	rectum

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