Variant report

Variant	rs35056623
Chromosome Location	chr2:96545293-96545294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12052684	0.86[ASN][1000 genomes]
rs12053279	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12053473	0.87[ASN][1000 genomes]
rs2293544	0.82[EUR][1000 genomes]
rs4146063	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57273135	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59534363	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6707224	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67216602	0.86[ASN][1000 genomes]
rs72492169	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72823927	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72931721	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
7	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
8	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
9	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
10	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
11	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
12	nsv874667	chr2:96465201-96596515	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv874668	chr2:96465201-96600569	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1826589	chr2:96468292-96583910	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv1826305	chr2:96468492-96583710	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv1848259	chr2:96477989-96583252	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
17	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
18	nsv10093	chr2:96524159-96583335	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3494591	chr2:96527740-96545607	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3494592	chr2:96527854-96545492	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv1847850	chr2:96532929-96582175	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv508154	chr2:96534336-96609925	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv1849015	chr2:96534572-96581975	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1004486	chr2:96544604-96684876	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1847704	chr2:96545150-96583452	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96500600-96553400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:96502600-96547800	Weak transcription	Fetal Thymus	thymus
3	chr2:96502600-96561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:96502800-96548400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:96502800-96548600	Weak transcription	Thymus	Thymus
6	chr2:96502800-96551400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:96502800-96555200	Weak transcription	Ovary	ovary
8	chr2:96502800-96585000	Weak transcription	Left Ventricle	heart
9	chr2:96502800-96616600	Weak transcription	Fetal Stomach	stomach
10	chr2:96503000-96563600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:96503200-96548800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:96506200-96549400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:96506600-96562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:96516200-96548400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:96516200-96549200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:96516800-96548600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:96516800-96553400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:96521800-96548600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:96521800-96548600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:96521800-96548600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:96521800-96555600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:96524400-96548600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:96525200-96548600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:96526600-96548600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:96526600-96549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:96526600-96555200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:96526800-96553000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:96526800-96555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:96526800-96557600	Weak transcription	NHDF-Ad	bronchial
30	chr2:96527800-96554000	Weak transcription	HUVEC	blood vessel
31	chr2:96528600-96555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:96528600-96560000	Weak transcription	Fetal Intestine Large	intestine
33	chr2:96530600-96548600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:96530600-96555200	Weak transcription	Fetal Brain Female	brain
35	chr2:96531200-96557800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:96533000-96548600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:96533000-96558000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:96536000-96576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:96536400-96548600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:96539000-96548600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:96539000-96549200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:96541000-96548600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:96541000-96555200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:96541000-96555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:96541000-96582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:96541000-96595400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:96541200-96559800	Weak transcription	HMEC	breast
48	chr2:96541600-96595200	Weak transcription	Fetal Brain Male	brain
49	chr2:96542400-96557200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:96542600-96558400	Weak transcription	Brain Substantia Nigra	brain

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