Variant report

Variant	rs1364657
Chromosome Location	chr2:148618267-148618268
allele	A/G
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]
rs1424942	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148604000-148620000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:148606000-148620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:148606000-148627600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:148606200-148620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:148609400-148619600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:148609400-148620800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:148613000-148627400	Weak transcription	Pancreas	Pancrea
8	chr2:148613000-148640800	Weak transcription	Lung	lung
9	chr2:148613200-148619800	Weak transcription	Fetal Intestine Large	intestine
10	chr2:148613200-148625600	Weak transcription	Right Atrium	heart
11	chr2:148613200-148631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:148614400-148620400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:148614600-148618800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:148614600-148621400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:148614800-148618600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:148615200-148619200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:148615400-148623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:148615600-148618400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:148615800-148618400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:148615800-148618800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:148615800-148621000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:148615800-148626200	Weak transcription	Ovary	ovary
23	chr2:148616000-148618400	Enhancers	Fetal Heart	heart
24	chr2:148616200-148618400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:148616200-148618800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:148616200-148619600	Weak transcription	Stomach Mucosa	stomach
27	chr2:148616200-148621000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:148616400-148619800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:148616600-148620400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:148616800-148618400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:148616800-148618400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:148616800-148619000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:148616800-148636200	Weak transcription	Small Intestine	intestine
34	chr2:148617000-148618600	Enhancers	Adipose Nuclei	Adipose
35	chr2:148617000-148618800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:148617000-148619400	Weak transcription	HepG2	liver
37	chr2:148617200-148618400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:148617200-148618400	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:148617200-148618400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:148617400-148618400	Enhancers	Brain Hippocampus Middle	brain
41	chr2:148617400-148619600	Weak transcription	Liver	Liver
42	chr2:148617600-148618400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr2:148617600-148618400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:148617600-148619200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:148617600-148620600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:148617800-148618400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:148617800-148619200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:148617800-148619600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:148617800-148621400	Weak transcription	HUVEC	blood vessel
50	chr2:148617800-148624400	Weak transcription	Placenta Amnion	Placenta Amnion

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