Variant report

Variant	rs1424942
Chromosome Location	chr2:148637077-148637078
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10171130	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10928370	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1227305	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12620026	0.97[YRI][hapmap]
rs13022827	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1364657	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469212	0.87[YRI][hapmap]
rs4972314	0.96[YRI][hapmap]
rs7581537	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7601098	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
3	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:148625600-148638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:148625800-148638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:148626600-148639800	Weak transcription	Left Ventricle	heart
8	chr2:148628200-148639800	Weak transcription	Right Atrium	heart
9	chr2:148634400-148638600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:148634600-148638400	Weak transcription	Psoas Muscle	Psoas
11	chr2:148634600-148638400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:148634600-148638600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:148634600-148641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:148634600-148641800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:148634600-148641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:148634600-148642400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:148634600-148642800	Weak transcription	Ovary	ovary
18	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:148634800-148638200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:148635000-148638800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:148635200-148637200	Weak transcription	Stomach Mucosa	stomach
22	chr2:148635200-148640400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:148635200-148641800	Weak transcription	Liver	Liver
24	chr2:148635400-148637200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:148635400-148638400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:148635600-148645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:148635800-148638600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:148636000-148640000	Weak transcription	Fetal Lung	lung
29	chr2:148636200-148637200	Enhancers	Small Intestine	intestine
30	chr2:148636200-148637200	Enhancers	HepG2	liver
31	chr2:148636200-148639400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:148636600-148637400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:148636600-148637400	Enhancers	Fetal Intestine Large	intestine
34	chr2:148636600-148638400	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:148636800-148637400	Enhancers	Duodenum Mucosa	Duodenum
36	chr2:148636800-148637400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:148636800-148638800	Enhancers	Fetal Intestine Small	intestine
38	chr2:148637000-148637400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:148637000-148639000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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