Variant report

Variant	rs73036341
Chromosome Location	chr2:179362817-179362818
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179361307..179367061-chr2:179369825..179374602,5	K562	blood:
2	chr2:179362528..179364837-chr2:179381836..179383554,2	K562	blood:
3	chr2:179354662..179357562-chr2:179362398..179365537,4	K562	blood:
4	chr2:179341915..179343963-chr2:179361012..179363425,2	K562	blood:

Variant related genes	Relation type
ENSG00000079150	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11893643	1.00[AMR][1000 genomes]
rs56839647	1.00[AMR][1000 genomes]
rs56986537	1.00[AMR][1000 genomes]
rs57496164	0.98[AFR][1000 genomes]
rs59265316	1.00[AMR][1000 genomes]
rs73034347	1.00[AMR][1000 genomes]
rs73034350	1.00[AMR][1000 genomes]
rs73034356	1.00[AMR][1000 genomes]
rs73034366	1.00[AMR][1000 genomes]
rs73034371	1.00[AMR][1000 genomes]
rs73034373	1.00[AMR][1000 genomes]
rs73034375	1.00[AMR][1000 genomes]
rs73034393	1.00[AMR][1000 genomes]
rs73036314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv1002693	chr2:179357045-179365143	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:179347400-179363000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179349800-179364200	Weak transcription	Hela-S3	cervix
6	chr2:179350400-179364200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:179350400-179371600	Strong transcription	Dnd41	blood
9	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:179351000-179368800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:179353400-179369000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:179353800-179368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:179354000-179371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:179354400-179371400	Strong transcription	Placenta	Placenta
25	chr2:179354400-179371600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:179354400-179372000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:179354600-179370000	Strong transcription	Liver	Liver
28	chr2:179354600-179373000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:179354600-179373000	Strong transcription	HSMM	muscle
30	chr2:179355000-179368000	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:179355200-179369000	Strong transcription	Fetal Intestine Large	intestine
32	chr2:179356000-179364600	Strong transcription	Thymus	Thymus
33	chr2:179356000-179367200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:179356000-179368400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:179356000-179368400	Strong transcription	Primary B cells from cord blood	blood
36	chr2:179357600-179368600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:179358200-179363400	Strong transcription	Left Ventricle	heart
38	chr2:179358200-179367800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:179358200-179367800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr2:179358200-179369600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:179358200-179369800	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:179358200-179372800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:179358600-179366200	Strong transcription	Ovary	ovary
44	chr2:179358600-179368600	Strong transcription	A549	lung
45	chr2:179358600-179370000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:179358600-179370000	Strong transcription	Adipose Nuclei	Adipose
47	chr2:179358600-179370600	Strong transcription	Fetal Thymus	thymus
48	chr2:179358800-179363000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:179358800-179363400	Strong transcription	Colon Smooth Muscle	Colon
50	chr2:179359400-179364000	Weak transcription	Fetal Kidney	kidney

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