Variant report

Variant	rs12996619
Chromosome Location	chr2:210361127-210361128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12986617	1.00[YRI][hapmap]
rs12988428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12989474	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12995238	1.00[YRI][hapmap]
rs12995429	1.00[YRI][hapmap]
rs12997113	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13005787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13020911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13025539	1.00[YRI][hapmap]
rs13027122	1.00[YRI][hapmap]
rs13027280	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030060	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236751	1.00[YRI][hapmap]
rs34173247	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34210024	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34382912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34628265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34807931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35174339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35241611	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35520781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35887391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725710	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71420755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71420759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr2:210358600-210362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:210359200-210361800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:210359600-210362200	Enhancers	Hela-S3	cervix
4	chr2:210359800-210361200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:210359800-210361400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:210359800-210361600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:210359800-210361600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:210360000-210361200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:210360000-210361400	Enhancers	Stomach Mucosa	stomach
10	chr2:210360000-210361600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:210360000-210361600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:210360000-210361800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:210360000-210361800	Enhancers	NHEK	skin
14	chr2:210360000-210363200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:210360200-210361200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:210360200-210361200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:210360200-210361400	Weak transcription	Right Atrium	heart
18	chr2:210360200-210361800	Enhancers	Osteobl	bone
19	chr2:210360200-210362000	Enhancers	Fetal Heart	heart
20	chr2:210360200-210363200	Weak transcription	Right Ventricle	heart
21	chr2:210360200-210366000	Weak transcription	Psoas Muscle	Psoas
22	chr2:210360200-210366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:210360400-210361400	Weak transcription	Left Ventricle	heart
24	chr2:210360400-210361400	Flanking Active TSS	A549	lung
25	chr2:210360400-210361600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:210360400-210361600	Enhancers	NHLF	lung
27	chr2:210360400-210363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:210360400-210363400	Weak transcription	Pancreas	Pancrea
29	chr2:210360600-210361200	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:210360600-210361200	Enhancers	HSMM	muscle
31	chr2:210360600-210361400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:210360600-210361400	Enhancers	Fetal Kidney	kidney
33	chr2:210360600-210361400	Enhancers	HepG2	liver
34	chr2:210360600-210361600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr2:210360800-210361200	Enhancers	Colon Smooth Muscle	Colon
36	chr2:210360800-210361400	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:210360800-210361600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:210360800-210361800	Enhancers	HMEC	breast
39	chr2:210361000-210361200	Enhancers	HSMMtube	muscle
40	chr2:210361000-210361400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:210361000-210361400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:210361000-210361400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:210361000-210361400	Flanking Active TSS	NH-A	brain
44	chr2:210361000-210361600	Enhancers	Adipose Nuclei	Adipose
45	chr2:210361000-210361600	Flanking Active TSS	HUVEC	blood vessel
46	chr2:210361000-210361600	Enhancers	NHDF-Ad	bronchial
47	chr2:210361000-210361800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:210361000-210361800	Weak transcription	Fetal Brain Female	brain
49	chr2:210361000-210363000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:210361000-210363000	Weak transcription	Brain Cingulate Gyrus	brain

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