Variant report

Variant	rs997432
Chromosome Location	chr2:148659467-148659468
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10460260	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12373822	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364656	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1424947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218781	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17218847	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17218959	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17219064	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17225207	1.00[EUR][1000 genomes]
rs17225277	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17225332	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17231987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17232001	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28706506	1.00[EUR][1000 genomes]
rs56047077	1.00[EUR][1000 genomes]
rs56080347	1.00[EUR][1000 genomes]
rs56672225	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57347579	1.00[EUR][1000 genomes]
rs61232656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964117	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73964118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964132	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73964139	1.00[EUR][1000 genomes]
rs979635	1.00[AFR][1000 genomes];1.00[EUR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
3	chr2:148642600-148668200	Weak transcription	Psoas Muscle	Psoas
4	chr2:148642800-148668200	Weak transcription	Fetal Lung	lung
5	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:148643200-148660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:148643200-148663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:148645800-148671400	Weak transcription	Fetal Heart	heart
11	chr2:148646000-148660600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:148646600-148663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:148646600-148668400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:148646600-148671200	Weak transcription	HMEC	breast
16	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
18	chr2:148649600-148674800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:148650800-148663400	Weak transcription	HUVEC	blood vessel
21	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:148652800-148693600	Weak transcription	Lung	lung
24	chr2:148653200-148692000	Weak transcription	Ovary	ovary
25	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
26	chr2:148653600-148671000	Weak transcription	Osteobl	bone
27	chr2:148653600-148671400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:148653600-148673400	Weak transcription	HepG2	liver
29	chr2:148653800-148671600	Weak transcription	Fetal Stomach	stomach
30	chr2:148653800-148672800	Weak transcription	Liver	Liver
31	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
32	chr2:148654400-148664400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:148655200-148674800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:148655400-148671600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:148655800-148671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:148655800-148671200	Weak transcription	Fetal Brain Male	brain
37	chr2:148656000-148668800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:148656200-148676800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:148656400-148660200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:148656400-148660400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:148656800-148661000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:148657000-148661800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:148657200-148659600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:148657800-148674400	Weak transcription	Fetal Kidney	kidney
45	chr2:148657800-148674400	Weak transcription	Left Ventricle	heart
46	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:148658000-148660400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:148658000-148668400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:148658000-148671600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:148658000-148672600	Weak transcription	Fetal Intestine Large	intestine

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