Variant report

Variant	rs7600413
Chromosome Location	chr2:37067137-37067138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17496249	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1861435	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2110942	0.88[EUR][1000 genomes]
rs3770781	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62132520	0.84[ASN][1000 genomes]
rs62132521	0.84[ASN][1000 genomes]
rs62132522	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6752845	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs711244	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37060800-37070000	Weak transcription	HSMM	muscle
2	chr2:37061400-37067200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:37061400-37067400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:37062400-37074000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:37062400-37075800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:37062600-37069400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:37062800-37073800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:37062800-37076000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:37063000-37067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:37063000-37069600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:37063000-37071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:37063000-37071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:37063000-37074000	Weak transcription	Dnd41	blood
15	chr2:37063000-37074200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:37063000-37076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:37063200-37074200	Weak transcription	HUVEC	blood vessel
19	chr2:37063400-37067200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:37063800-37069600	Weak transcription	NHEK	skin
21	chr2:37064000-37076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:37065800-37074000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
24	chr2:37066000-37069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:37066000-37076200	Weak transcription	Lung	lung
26	chr2:37066200-37075200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:37066400-37076200	Weak transcription	Fetal Stomach	stomach
28	chr2:37066600-37067600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:37066800-37069600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:37066800-37076200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:37067000-37067400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:37067000-37067600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:37067000-37067600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:37067000-37067600	Enhancers	Adipose Nuclei	Adipose

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