Variant report

Variant	rs7228224
Chromosome Location	chr18:29620320-29620321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29616707..29618971-chr18:29620186..29622381,2	K562	blood:

Variant related genes	Relation type
ENSG00000101695	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10438934	0.82[ASN][1000 genomes]
rs12455805	0.90[ASN][1000 genomes]
rs12455807	0.90[ASN][1000 genomes]
rs1984583	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432697	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2433377	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2901365	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs336274	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs336275	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs336276	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs417944	0.88[ASN][1000 genomes]
rs62093943	0.90[ASN][1000 genomes]
rs641777	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73413971	0.81[ASN][1000 genomes]
rs8089092	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9947278	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600600-29620400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
4	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:29602800-29620600	Weak transcription	Brain Angular Gyrus	brain
8	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
10	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
11	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:29613000-29627000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:29614000-29620800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:29615600-29620600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:29615800-29628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
19	chr18:29616200-29628800	Weak transcription	Gastric	stomach
20	chr18:29616800-29620400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:29616800-29620400	Strong transcription	Adipose Nuclei	Adipose
22	chr18:29617000-29620600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:29617200-29620400	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr18:29617200-29629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:29617800-29620400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr18:29617800-29620400	Weak transcription	GM12878-XiMat	blood
27	chr18:29618000-29620400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:29618000-29620600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:29618000-29628800	Weak transcription	Left Ventricle	heart
30	chr18:29618000-29629000	Weak transcription	Lung	lung
31	chr18:29618200-29624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr18:29618200-29624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:29618600-29620400	Weak transcription	Brain Substantia Nigra	brain
36	chr18:29618600-29620400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:29618600-29628200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:29618600-29628600	Weak transcription	Spleen	Spleen
39	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr18:29618800-29620400	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:29618800-29620400	Weak transcription	Fetal Intestine Large	intestine
42	chr18:29618800-29620400	Weak transcription	Fetal Thymus	thymus
43	chr18:29619000-29620400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr18:29619000-29620400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr18:29619000-29622000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:29619200-29620400	Enhancers	Primary hematopoietic stem cells	blood
47	chr18:29619200-29621000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:29619200-29621000	Weak transcription	Thymus	Thymus
49	chr18:29619400-29620400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr18:29619400-29620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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