Variant report

Variant	rs2410806
Chromosome Location	chr3:194919955-194919956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194906815..194911611-chr3:194916675..194920611,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1114507	0.89[JPT][hapmap]
rs11925335	0.88[ASW][hapmap];0.80[LWK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs12495970	0.84[GIH][hapmap]
rs1961324	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs2410807	0.89[JPT][hapmap]
rs729820	0.89[JPT][hapmap]
rs7653312	0.89[JPT][hapmap]
rs903311	0.84[JPT][hapmap]
rs9825199	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs9826142	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs9856486	0.94[ASW][hapmap];0.89[LWK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
12	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
13	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
14	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
17	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
20	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194909600-194921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:194915000-194920000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:194915200-194922600	Enhancers	HepG2	liver
4	chr3:194915800-194920000	Enhancers	HUVEC	blood vessel
5	chr3:194915800-194920400	Weak transcription	Primary T cells from cord blood	blood
6	chr3:194916200-194921400	Enhancers	K562	blood
7	chr3:194916600-194929000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:194916800-194924200	Weak transcription	Psoas Muscle	Psoas
9	chr3:194917000-194924400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:194917200-194921400	Weak transcription	Right Atrium	heart
11	chr3:194917200-194921600	Weak transcription	Fetal Thymus	thymus
12	chr3:194917200-194922200	Enhancers	NHDF-Ad	bronchial
13	chr3:194917200-194924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:194917200-194924400	Weak transcription	Right Ventricle	heart
15	chr3:194917200-194924600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:194917200-194924600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:194917200-194925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:194917200-194925200	Weak transcription	Esophagus	oesophagus
19	chr3:194917200-194927800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:194917400-194921400	Weak transcription	Left Ventricle	heart
21	chr3:194917400-194922000	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:194917400-194924000	Weak transcription	Fetal Stomach	stomach
23	chr3:194917400-194924200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:194917400-194924200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:194917400-194924400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:194917400-194924400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:194917400-194924400	Weak transcription	Brain Hippocampus Middle	brain
28	chr3:194917400-194924600	Weak transcription	Adipose Nuclei	Adipose
29	chr3:194917400-194924600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:194917400-194924800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:194917600-194920000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:194917600-194924600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:194917600-194929400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:194917600-194930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:194917800-194923600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:194917800-194924200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:194917800-194924200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:194917800-194924400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:194917800-194925200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:194917800-194925200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:194917800-194930400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:194918000-194923400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:194918200-194920000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:194918200-194920000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:194918200-194920000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:194918600-194924400	Weak transcription	Fetal Heart	heart
47	chr3:194918800-194924200	Weak transcription	GM12878-XiMat	blood
48	chr3:194918800-194945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:194919000-194920000	Enhancers	Liver	Liver
50	chr3:194919200-194920000	Enhancers	Fetal Lung	lung

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