Variant report

Variant	rs2372488
Chromosome Location	chr3:43660354-43660355
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43651678..43655592-chr3:43657282..43661230,5	K562	blood:
2	chr3:43659494..43665311-chr3:43727005..43736111,18	K562	blood:
3	chr3:43659494..43661561-chr3:43680176..43682432,2	K562	blood:
4	chr3:43639967..43641493-chr3:43658059..43660973,2	K562	blood:
5	chr3:43656042..43659145-chr3:43659589..43663230,4	MCF-7	breast:
6	chr3:43650765..43652623-chr3:43659700..43661471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1021049	0.80[AMR][1000 genomes]
rs11130006	0.84[AMR][1000 genomes]
rs12152260	0.84[AMR][1000 genomes]
rs1482653	0.84[AMR][1000 genomes]
rs2170219	0.84[AMR][1000 genomes]
rs4682898	0.84[AMR][1000 genomes]
rs6441785	0.80[AMR][1000 genomes]
rs6441787	0.84[AMR][1000 genomes]
rs6779864	0.80[AMR][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	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
2	chr3:43618600-43662400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:43625800-43662600	Weak transcription	Primary T cells from cord blood	blood
4	chr3:43633200-43662400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:43633400-43662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:43633400-43662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:43633400-43662600	Weak transcription	Pancreas	Pancrea
8	chr3:43634000-43662400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:43634000-43662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:43634000-43662600	Weak transcription	Ovary	ovary
11	chr3:43634400-43662000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:43634600-43662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:43635200-43662600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:43639400-43662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:43639800-43662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:43642000-43662400	Weak transcription	Brain Germinal Matrix	brain
17	chr3:43645400-43662400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:43645400-43662400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:43646200-43661800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:43646800-43662000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:43646800-43662200	Weak transcription	HUVEC	blood vessel
22	chr3:43647000-43662200	Weak transcription	Adipose Nuclei	Adipose
23	chr3:43647000-43662200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:43647000-43662200	Weak transcription	NHEK	skin
25	chr3:43647200-43661400	Weak transcription	HSMM	muscle
26	chr3:43647400-43662200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:43647400-43662200	Weak transcription	NHLF	lung
28	chr3:43647600-43662200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:43647600-43662200	Weak transcription	NHDF-Ad	bronchial
30	chr3:43648400-43662200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:43648400-43662200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:43648400-43662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:43648400-43662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:43654200-43662600	Weak transcription	Gastric	stomach
35	chr3:43654400-43662600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:43655600-43662200	Weak transcription	Fetal Intestine Large	intestine
37	chr3:43655600-43662200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr3:43656800-43662200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:43656800-43662400	Weak transcription	Fetal Intestine Small	intestine
40	chr3:43657000-43662200	Weak transcription	HepG2	liver
41	chr3:43657000-43662400	Weak transcription	Colonic Mucosa	Colon
42	chr3:43658000-43662000	Weak transcription	Fetal Muscle Leg	muscle
43	chr3:43658000-43662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:43658000-43662200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:43658200-43662200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:43658600-43662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:43658600-43662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:43658800-43662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:43658800-43662600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr3:43659000-43662600	Weak transcription	Psoas Muscle	Psoas

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