Variant report

Variant	rs4398800
Chromosome Location	chr7:21957071-21957072
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	GATA3	chr7:21956951-21957135	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21957056..21958592-chr7:21961701..21964612,2	K562	blood:

Variant related genes	Relation type
CDCA7L	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1128250	0.83[AFR][1000 genomes]
rs12700327	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4566940	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60181879	0.93[EUR][1000 genomes];0.92[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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1027453	chr7:21918474-21982448	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21933000-21963200	Weak transcription	A549	lung
2	chr7:21938600-21984000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:21942400-21957200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:21944000-21957400	Weak transcription	Colonic Mucosa	Colon
5	chr7:21946200-21957600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:21946200-21963400	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:21947800-21958000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:21948400-21960400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:21948800-21981000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:21950400-21960400	Weak transcription	Fetal Brain Female	brain
11	chr7:21951600-21982600	Weak transcription	HSMM	muscle
12	chr7:21952400-21963200	Weak transcription	Psoas Muscle	Psoas
13	chr7:21952600-21958400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:21952600-21977400	Weak transcription	NHDF-Ad	bronchial
15	chr7:21952800-21960000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:21952800-21963200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:21953400-21960200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:21953800-21958200	Weak transcription	Left Ventricle	heart
19	chr7:21954200-21959000	Weak transcription	Right Atrium	heart
20	chr7:21954400-21958200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:21954400-21958200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:21954400-21960400	Weak transcription	Brain Anterior Caudate	brain
23	chr7:21954400-21963200	Weak transcription	Hela-S3	cervix
24	chr7:21954600-21958400	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:21954800-21957200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:21954800-21957200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:21954800-21957800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr7:21954800-21961800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:21954800-21962800	Weak transcription	Pancreas	Pancrea
30	chr7:21954800-21966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:21954800-21970400	Weak transcription	Liver	Liver
32	chr7:21954800-21971800	Weak transcription	Gastric	stomach
33	chr7:21955000-21957400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:21955000-21958200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:21955000-21959600	Weak transcription	GM12878-XiMat	blood
36	chr7:21955000-21960400	Weak transcription	Right Ventricle	heart
37	chr7:21955000-21967400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:21955000-21969800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:21955000-21979000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:21955000-21979200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:21955000-21979600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:21955000-21981000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:21955200-21967800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:21955400-21959000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:21955800-21957800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:21955800-21959200	Weak transcription	Lung	lung
47	chr7:21955800-21960200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:21956000-21957600	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:21956000-21959400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:21956000-21960200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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