Variant report

Variant	rs2812703
Chromosome Location	chr6:80388348-80388349
allele	C/T
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:12)

rs_ID	r²[population]
rs1009742	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235880	1.00[ASN][1000 genomes]
rs2473826	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2746314	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2746316	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2746317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2812701	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2812708	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812712	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2812713	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs980225	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers 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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
2	chr6:80376400-80396200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:80376400-80402000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:80378000-80394400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:80378200-80396000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:80378200-80405000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:80378400-80403800	Weak transcription	Esophagus	oesophagus
8	chr6:80381200-80390000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:80381600-80388600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:80381600-80390400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:80381600-80396400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:80381600-80400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:80381600-80408200	Weak transcription	Fetal Stomach	stomach
14	chr6:80381800-80395800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:80382000-80394200	Weak transcription	Small Intestine	intestine
16	chr6:80382200-80411800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:80382400-80396600	Weak transcription	Fetal Lung	lung
18	chr6:80382600-80391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:80382600-80414800	Weak transcription	HUVEC	blood vessel
20	chr6:80382800-80396400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:80382800-80413000	Weak transcription	Placenta	Placenta
22	chr6:80382800-80414000	Weak transcription	HSMM	muscle
23	chr6:80383800-80393600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:80383800-80396400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:80383800-80396400	Weak transcription	K562	blood
26	chr6:80384200-80395800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:80384200-80406200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:80384400-80395800	Weak transcription	Adipose Nuclei	Adipose
29	chr6:80384600-80396400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:80384600-80396400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:80384600-80397000	Weak transcription	Brain Angular Gyrus	brain
32	chr6:80384600-80405600	Weak transcription	Fetal Kidney	kidney
33	chr6:80385000-80388600	Weak transcription	Fetal Brain Female	brain
34	chr6:80385000-80392000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:80385000-80394800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:80385200-80388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:80385400-80396600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:80385800-80388400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:80385800-80396400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:80386200-80389400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:80386800-80394200	Weak transcription	Fetal Intestine Large	intestine
42	chr6:80387000-80396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:80387400-80393800	Weak transcription	Stomach Mucosa	stomach
44	chr6:80387400-80396400	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:80387400-80396400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:80387400-80396400	Weak transcription	Gastric	stomach
47	chr6:80387400-80396400	Weak transcription	Psoas Muscle	Psoas
48	chr6:80387400-80396400	Weak transcription	Right Atrium	heart
49	chr6:80387400-80396600	Weak transcription	Ovary	ovary
50	chr6:80387400-80397200	Weak transcription	Liver	Liver

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