Variant report

Variant	rs73218018
Chromosome Location	chr3:111814298-111814299
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111813838..111815744-chr3:111818709..111820600,2	K562	blood:
2	chr3:111804970..111806559-chr3:111814043..111816179,2	MCF-7	breast:
3	chr3:111813403..111815465-chr3:112280077..112281630,2	K562	blood:

Variant related genes	Relation type
ENSG00000138459	Chromatin interaction
ENSG00000114529	Chromatin interaction
ENSG00000144848	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs340146	1.00[ASN][1000 genomes]
rs340151	0.94[EUR][1000 genomes]
rs60333691	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218049	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219938	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111806000-111821600	Weak transcription	Lung	lung
2	chr3:111806800-111816400	Weak transcription	Aorta	Aorta
3	chr3:111807000-111816200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:111810200-111815600	Weak transcription	HUVEC	blood vessel
5	chr3:111810400-111852000	Weak transcription	Esophagus	oesophagus
6	chr3:111812000-111814800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:111812000-111816000	Weak transcription	NHLF	lung
8	chr3:111812000-111816200	Weak transcription	GM12878-XiMat	blood
9	chr3:111812000-111825000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:111812000-111844000	Weak transcription	Colonic Mucosa	Colon
11	chr3:111812000-111845600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:111812200-111815000	Weak transcription	Fetal Intestine Large	intestine
13	chr3:111812200-111815400	Weak transcription	HMEC	breast
14	chr3:111812200-111815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:111812200-111816000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:111812200-111816400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:111812200-111820200	Weak transcription	Gastric	stomach
18	chr3:111812200-111820200	Weak transcription	Thymus	Thymus
19	chr3:111812200-111828000	Weak transcription	Left Ventricle	heart
20	chr3:111812200-111853000	Weak transcription	Right Ventricle	heart
21	chr3:111812400-111814400	Enhancers	Fetal Heart	heart
22	chr3:111812400-111814400	Strong transcription	Fetal Thymus	thymus
23	chr3:111812400-111814400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:111812400-111814800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:111812400-111815000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:111812400-111816000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:111812400-111816200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:111812400-111816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:111812400-111816200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:111812400-111816200	Weak transcription	HSMM	muscle
31	chr3:111812400-111816600	Weak transcription	HSMMtube	muscle
32	chr3:111812400-111820400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:111812400-111820600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:111812400-111820800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:111812400-111821400	Weak transcription	Primary B cells from cord blood	blood
36	chr3:111812400-111822000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:111812400-111824800	Weak transcription	Primary T cells from cord blood	blood
38	chr3:111812400-111832000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:111812400-111835800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:111812600-111814600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:111812600-111814800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:111812600-111816000	Weak transcription	Osteobl	bone
43	chr3:111812600-111821800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:111812600-111828000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:111812600-111840200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:111813200-111814600	Weak transcription	Placenta	Placenta
47	chr3:111813200-111815000	Weak transcription	Fetal Intestine Small	intestine
48	chr3:111813600-111814400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr3:111813600-111815200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:111813800-111814400	Enhancers	Stomach Mucosa	stomach

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