Variant report

Variant	rs73964121
Chromosome Location	chr2:148634959-148634960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13339769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55650008	1.00[AMR][1000 genomes]
rs55789579	1.00[AFR][1000 genomes]
rs56019057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56230499	1.00[AMR][1000 genomes]
rs57649486	1.00[AMR][1000 genomes]
rs58152261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59792091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61182887	0.84[AFR][1000 genomes]
rs73963902	0.84[AFR][1000 genomes]
rs73964124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964127	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964137	1.00[AMR][1000 genomes]
rs73964195	1.00[AMR][1000 genomes]
rs73964200	1.00[AMR][1000 genomes]
rs73964325	1.00[AMR][1000 genomes]
rs73964327	1.00[AMR][1000 genomes]
rs73964329	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148616800-148636200	Weak transcription	Small Intestine	intestine
3	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:148621400-148637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:148625600-148638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:148625800-148638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:148626000-148637000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:148626600-148639800	Weak transcription	Left Ventricle	heart
11	chr2:148628200-148636600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:148628200-148639800	Weak transcription	Right Atrium	heart
13	chr2:148631600-148636600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:148631800-148636800	Weak transcription	Fetal Intestine Small	intestine
15	chr2:148633000-148636600	Enhancers	Colon Smooth Muscle	Colon
16	chr2:148633400-148635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:148633400-148636200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:148633600-148635000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:148633600-148635600	Enhancers	Fetal Kidney	kidney
20	chr2:148634200-148635600	Active TSS	Stomach Smooth Muscle	stomach
21	chr2:148634200-148635800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:148634400-148635000	Enhancers	Brain Angular Gyrus	brain
23	chr2:148634400-148635800	Enhancers	Duodenum Mucosa	Duodenum
24	chr2:148634400-148638600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:148634600-148635200	Enhancers	Liver	Liver
26	chr2:148634600-148635400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:148634600-148635400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:148634600-148635400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:148634600-148636800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:148634600-148636800	Weak transcription	Right Ventricle	heart
31	chr2:148634600-148636800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:148634600-148638400	Weak transcription	Psoas Muscle	Psoas
33	chr2:148634600-148638400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:148634600-148638600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:148634600-148641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:148634600-148641800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:148634600-148641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:148634600-148642400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:148634600-148642800	Weak transcription	Ovary	ovary
40	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:148634800-148635200	Enhancers	Stomach Mucosa	stomach
42	chr2:148634800-148638200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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