Variant report

Variant	rs73394127
Chromosome Location	chr18:9214369-9214370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr18:9214354-9214530	HepG2	liver:	n/a	chr18:9214458-9214469

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9212963..9214485-chr18:9221786..9224318,2	K562	blood:

Variant related genes	Relation type
ANKRD12	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73394172	0.91[AFR][1000 genomes]
rs73394178	0.91[AFR][1000 genomes]
rs73396122	0.91[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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
2	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
3	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
4	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
5	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
8	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
9	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
10	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
11	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
12	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
13	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
14	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
15	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
17	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:9189400-9215000	Weak transcription	Aorta	Aorta
19	chr18:9192200-9215400	Weak transcription	Psoas Muscle	Psoas
20	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:9192200-9284000	Weak transcription	NHEK	skin
22	chr18:9192400-9214400	Weak transcription	Fetal Muscle Leg	muscle
23	chr18:9193400-9224800	Weak transcription	Lung	lung
24	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
25	chr18:9194800-9219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:9195200-9214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr18:9195800-9214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:9199200-9224800	Weak transcription	Fetal Intestine Small	intestine
29	chr18:9200400-9214600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:9201000-9232000	Weak transcription	Brain Substantia Nigra	brain
31	chr18:9201200-9232800	Weak transcription	Gastric	stomach
32	chr18:9201400-9222200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:9201600-9220400	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:9201800-9221800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:9202200-9234000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr18:9202600-9229400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr18:9203400-9228800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr18:9204800-9214400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr18:9205000-9214400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:9205000-9214400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr18:9205000-9221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr18:9205000-9221800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr18:9207600-9226800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:9207800-9225200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:9207800-9231000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr18:9208000-9228600	Strong transcription	Liver	Liver
47	chr18:9208400-9219200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:9208400-9227000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:9208800-9214400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr18:9208800-9226400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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