Variant report

Variant	rs6716471
Chromosome Location	chr2:173204897-173204898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10930550	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35703952	0.81[ASN][1000 genomes]
rs4484005	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4487062	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4552157	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972502	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4972802	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972807	0.81[ASN][1000 genomes]
rs62169683	0.81[ASN][1000 genomes]
rs6433354	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6719962	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6729717	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6729987	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7583083	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173199600-173208000	Enhancers	Stomach Mucosa	stomach
2	chr2:173199800-173205000	Enhancers	Fetal Intestine Small	intestine
3	chr2:173202400-173207200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:173203600-173205400	Enhancers	Small Intestine	intestine
5	chr2:173203600-173208400	Enhancers	Fetal Intestine Large	intestine
6	chr2:173204000-173205000	Enhancers	Brain Hippocampus Middle	brain
7	chr2:173204000-173205000	Enhancers	Fetal Thymus	thymus
8	chr2:173204000-173205000	Enhancers	Left Ventricle	heart
9	chr2:173204000-173205200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:173204000-173205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:173204000-173205200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:173204000-173205400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:173204000-173205400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:173204000-173205400	Enhancers	Psoas Muscle	Psoas
15	chr2:173204000-173205600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:173204000-173205600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:173204000-173205600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173204000-173205600	Enhancers	HSMM	muscle
19	chr2:173204000-173205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:173204000-173205800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:173204000-173206200	Flanking Active TSS	HepG2	liver
22	chr2:173204200-173205000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:173204200-173205000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr2:173204200-173205000	Enhancers	A549	lung
25	chr2:173204200-173205200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:173204200-173205200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:173204200-173205400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr2:173204200-173205400	Enhancers	Dnd41	blood
29	chr2:173204200-173205600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:173204200-173205600	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:173204200-173205600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:173204200-173205800	Enhancers	Adipose Nuclei	Adipose
33	chr2:173204200-173206000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:173204200-173206000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:173204200-173206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:173204400-173205000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:173204400-173205000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:173204400-173205000	Enhancers	Primary T cells from cord blood	blood
39	chr2:173204400-173205000	Enhancers	Primary hematopoietic stem cells	blood
40	chr2:173204400-173205000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr2:173204400-173205000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:173204400-173205000	Enhancers	Brain Substantia Nigra	brain
43	chr2:173204400-173205000	Enhancers	NHDF-Ad	bronchial
44	chr2:173204400-173205200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:173204400-173205200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:173204400-173205200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:173204400-173205400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr2:173204400-173205400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:173204400-173205400	Active TSS	Colon Smooth Muscle	Colon
50	chr2:173204400-173205400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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