Variant report

Variant	rs6714161
Chromosome Location	chr2:210929487-210929488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10179268	1.00[ASN][1000 genomes]
rs10192315	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155845	1.00[ASN][1000 genomes]
rs11675027	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678206	1.00[ASN][1000 genomes]
rs11682370	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686587	1.00[ASN][1000 genomes]
rs11688180	1.00[ASN][1000 genomes]
rs11688922	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989455	1.00[ASN][1000 genomes]
rs12992714	1.00[ASN][1000 genomes]
rs13006132	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009071	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009890	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011543	1.00[ASN][1000 genomes]
rs13015354	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017647	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017752	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018349	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019613	1.00[ASN][1000 genomes]
rs13020232	1.00[ASN][1000 genomes]
rs13021055	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025700	1.00[ASN][1000 genomes]
rs13415601	1.00[ASN][1000 genomes]
rs1509570	1.00[ASN][1000 genomes]
rs1509571	1.00[ASN][1000 genomes]
rs1509572	1.00[ASN][1000 genomes]
rs16844058	1.00[ASN][1000 genomes]
rs2160020	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2539005	1.00[ASN][1000 genomes]
rs263668	1.00[ASN][1000 genomes]
rs263675	1.00[ASN][1000 genomes]
rs263680	1.00[ASN][1000 genomes]
rs263681	1.00[ASN][1000 genomes]
rs263686	1.00[ASN][1000 genomes]
rs34334556	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34678259	1.00[ASN][1000 genomes]
rs35125543	1.00[ASN][1000 genomes]
rs62202972	1.00[ASN][1000 genomes]
rs6435561	1.00[ASN][1000 genomes]
rs6716836	1.00[ASN][1000 genomes]
rs6732072	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732486	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735292	1.00[ASN][1000 genomes]
rs6754591	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760874	1.00[ASN][1000 genomes]
rs71350736	1.00[ASN][1000 genomes]
rs7557043	1.00[ASN][1000 genomes]
rs7609345	0.84[EUR][1000 genomes];1.00[ASN][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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210881800-210953000	Weak transcription	Gastric	stomach
2	chr2:210893400-210939000	Weak transcription	Brain Substantia Nigra	brain
3	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
4	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
5	chr2:210913000-210937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:210913000-210964400	Weak transcription	Primary B cells from cord blood	blood
7	chr2:210918200-210935400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:210920000-210937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:210920200-210931000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:210920200-210937800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:210920200-210939600	Weak transcription	HSMMtube	muscle
12	chr2:210920200-210942800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:210920200-210963800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:210920200-210968200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:210920400-210931600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:210921000-210950800	Weak transcription	Liver	Liver
17	chr2:210921000-210977200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
19	chr2:210921200-210937600	Weak transcription	Brain Anterior Caudate	brain
20	chr2:210921200-210942000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:210921600-210937200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:210921800-210937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:210921800-210939800	Weak transcription	Adipose Nuclei	Adipose
25	chr2:210922000-210939000	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:210922000-210977600	Weak transcription	Fetal Lung	lung
27	chr2:210922200-210931000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:210924200-210931400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:210924200-210962400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:210924200-210962400	Weak transcription	Fetal Intestine Large	intestine
31	chr2:210924200-210964800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:210924400-210942800	Weak transcription	Fetal Brain Male	brain
33	chr2:210924600-210937800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:210927000-210929600	Strong transcription	Thymus	Thymus
35	chr2:210927200-210930000	Weak transcription	Brain Germinal Matrix	brain
36	chr2:210927600-210930200	Strong transcription	Ovary	ovary
37	chr2:210928200-210977400	Weak transcription	Aorta	Aorta
38	chr2:210928400-210930600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:210928400-210933800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:210928400-210939000	Weak transcription	Fetal Brain Female	brain
41	chr2:210928400-210945000	Weak transcription	Lung	lung
42	chr2:210928400-210971200	Weak transcription	Fetal Stomach	stomach
43	chr2:210928400-210973000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:210928400-210977200	Weak transcription	Fetal Intestine Small	intestine
45	chr2:210928400-210977400	Weak transcription	Primary T cells from cord blood	blood
46	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
47	chr2:210929000-210940600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:210929000-210971400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:210929200-210931800	Strong transcription	Fetal Thymus	thymus
50	chr2:210929400-210929800	Strong transcription	Left Ventricle	heart

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