Variant report

Variant	rs10183450
Chromosome Location	chr2:148614174-148614175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148601400..148602915-chr2:148613570..148615600,2	MCF-7	breast:
2	chr2:148613084..148614805-chr2:148624433..148625957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10084286	1.00[AMR][1000 genomes]
rs10174213	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176479	1.00[AMR][1000 genomes]
rs10205968	0.90[AFR][1000 genomes]
rs10469571	1.00[AMR][1000 genomes]
rs13386143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388113	1.00[AMR][1000 genomes]
rs13417581	1.00[AMR][1000 genomes]
rs13426527	1.00[AMR][1000 genomes]
rs28801194	1.00[AMR][1000 genomes]
rs7602886	1.00[AMR][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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148604000-148620000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:148604600-148614600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:148604600-148616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:148604600-148617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:148604600-148617600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:148604600-148617600	Weak transcription	HSMM	muscle
7	chr2:148605600-148614600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:148606000-148614200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:148606000-148614600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:148606000-148620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:148606000-148627600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:148606200-148620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:148607400-148617400	Weak transcription	Fetal Brain Female	brain
14	chr2:148607800-148615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:148608200-148614800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:148608600-148616800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:148608800-148617400	Weak transcription	HSMMtube	muscle
18	chr2:148609000-148617000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:148609200-148614400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:148609400-148616000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:148609400-148619600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:148609400-148620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:148610400-148616200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:148612200-148615600	Weak transcription	Ovary	ovary
25	chr2:148613000-148614600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:148613000-148614800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:148613000-148615600	Weak transcription	Psoas Muscle	Psoas
28	chr2:148613000-148615800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:148613000-148616800	Weak transcription	Left Ventricle	heart
30	chr2:148613000-148617600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:148613000-148617600	Weak transcription	Gastric	stomach
32	chr2:148613000-148627400	Weak transcription	Pancreas	Pancrea
33	chr2:148613000-148640800	Weak transcription	Lung	lung
34	chr2:148613200-148616000	Weak transcription	Fetal Heart	heart
35	chr2:148613200-148616000	Weak transcription	HepG2	liver
36	chr2:148613200-148616800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:148613200-148619800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:148613200-148625600	Weak transcription	Right Atrium	heart
39	chr2:148613200-148631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:148613800-148614800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:148613800-148615000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:148613800-148615600	Weak transcription	Stomach Mucosa	stomach
43	chr2:148613800-148616800	Weak transcription	Liver	Liver
44	chr2:148613800-148617000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:148613800-148617600	Weak transcription	Right Ventricle	heart
46	chr2:148614000-148616000	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:148614000-148617200	Weak transcription	Fetal Brain Male	brain

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