Variant report

Variant	rs13423906
Chromosome Location	chr2:208835078-208835079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10176919	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10189041	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10195504	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200892	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10209093	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs10497889	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11692908	0.81[YRI][hapmap]
rs11895970	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11896789	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392361	0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405165	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13418213	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422017	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16840280	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2362781	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59206831	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59524824	0.95[AFR][1000 genomes]
rs6435400	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707468	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711353	0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6715281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73064902	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066711	0.95[AFR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208796000-208835200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:208810400-208841000	Weak transcription	Fetal Lung	lung
3	chr2:208811200-208835200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:208815400-208835400	Weak transcription	Right Ventricle	heart
5	chr2:208815400-208840800	Weak transcription	Ovary	ovary
6	chr2:208825200-208841400	Weak transcription	Aorta	Aorta
7	chr2:208825600-208841400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:208826600-208841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:208826800-208840800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:208827200-208841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:208827200-208841400	Weak transcription	Pancreas	Pancrea
12	chr2:208827400-208835200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:208827400-208841400	Weak transcription	Left Ventricle	heart
14	chr2:208827400-208841400	Weak transcription	Lung	lung
15	chr2:208827400-208857400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:208827800-208840800	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:208828000-208840800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:208828000-208841000	Weak transcription	Fetal Thymus	thymus
19	chr2:208828200-208838600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:208828200-208838600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:208828200-208840400	Weak transcription	Thymus	Thymus
22	chr2:208828200-208841400	Weak transcription	Dnd41	blood
23	chr2:208831800-208836000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:208832000-208836800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:208832600-208835200	Weak transcription	Fetal Brain Female	brain
26	chr2:208832600-208835800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:208832600-208836200	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:208832800-208836200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:208832800-208841400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:208833200-208835600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:208833400-208835200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:208833400-208836800	Enhancers	Fetal Intestine Small	intestine
33	chr2:208833600-208835800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:208834000-208835600	Enhancers	Stomach Mucosa	stomach
35	chr2:208834000-208835800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:208834000-208836000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:208834000-208836000	Enhancers	HepG2	liver
38	chr2:208834000-208836800	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:208834000-208842600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:208834000-208864000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:208834200-208835800	Enhancers	A549	lung
42	chr2:208834200-208836000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr2:208834200-208836000	Enhancers	Brain Anterior Caudate	brain
44	chr2:208834200-208836200	Enhancers	Fetal Intestine Large	intestine
45	chr2:208834400-208835400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:208834400-208835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:208834400-208835400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:208834400-208835800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr2:208834400-208835800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:208834400-208836000	Enhancers	Brain Germinal Matrix	brain

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