Variant report

Variant	rs6707224
Chromosome Location	chr2:96499474-96499475
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12052684	0.81[ASN][1000 genomes]
rs12053279	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12053473	0.82[ASN][1000 genomes]
rs12613703	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35056623	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3901108	0.87[EUR][1000 genomes]
rs4146063	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55695015	0.87[EUR][1000 genomes]
rs56192525	0.87[EUR][1000 genomes]
rs57273135	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59534363	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs67216602	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72492169	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72823924	0.87[EUR][1000 genomes]
rs72823927	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72931721	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv874662	chr2:96334397-96578621	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv874664	chr2:96370571-96534132	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv874665	chr2:96370571-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv874666	chr2:96370571-96691125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1004482	chr2:96408987-96596717	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv834303	chr2:96432935-96551704	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv428054	chr2:96438238-96627125	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv961832	chr2:96453677-96671971	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv874667	chr2:96465201-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv874668	chr2:96465201-96600569	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv1826589	chr2:96468292-96583910	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv1826305	chr2:96468492-96583710	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv1848259	chr2:96477989-96583252	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv834304	chr2:96493545-96667472	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96493000-96506400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:96493200-96502000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:96494000-96503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:96494000-96504600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:96494200-96500400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:96494200-96501000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:96494200-96501400	ZNF genes & repeats	Fetal Stomach	stomach
8	chr2:96494200-96502000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:96494200-96502600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:96494200-96502600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:96494200-96503200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:96494200-96517600	Weak transcription	HUVEC	blood vessel
13	chr2:96494400-96501000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:96494400-96506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:96494600-96515800	Weak transcription	Fetal Brain Male	brain
16	chr2:96494800-96502000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:96494800-96506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:96495000-96523200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:96495000-96532800	Weak transcription	HSMM	muscle
20	chr2:96495200-96501800	Weak transcription	Small Intestine	intestine
21	chr2:96495200-96502400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:96495400-96502400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:96495600-96502800	Strong transcription	Thymus	Thymus
24	chr2:96495600-96504000	Weak transcription	HepG2	liver
25	chr2:96495600-96504200	Weak transcription	Right Ventricle	heart
26	chr2:96495600-96515800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:96495800-96503800	Weak transcription	Stomach Mucosa	stomach
28	chr2:96496000-96499600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:96496000-96502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:96496000-96502800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:96496200-96500000	Weak transcription	Gastric	stomach
32	chr2:96496200-96500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:96496200-96500400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:96496200-96502600	Weak transcription	Pancreas	Pancrea
35	chr2:96496400-96500000	Weak transcription	Brain Anterior Caudate	brain
36	chr2:96496400-96500000	Weak transcription	Lung	lung
37	chr2:96496400-96500400	Weak transcription	Liver	Liver
38	chr2:96496400-96500800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:96496400-96515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:96496600-96505200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:96496600-96521200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:96496800-96504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:96497000-96499600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:96497000-96502800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:96497000-96504000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:96497000-96515800	Weak transcription	Fetal Lung	lung
47	chr2:96497000-96515800	Weak transcription	NHEK	skin
48	chr2:96497200-96501400	ZNF genes & repeats	Fetal Thymus	thymus
49	chr2:96497400-96499800	Weak transcription	Aorta	Aorta
50	chr2:96497400-96501200	Weak transcription	Left Ventricle	heart

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