Variant report

Variant	rs6790425
Chromosome Location	chr3:194943821-194943822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194943164..194945109-chr3:194956482..194959428,2	K562	blood:
2	chr3:194942662..194945263-chr3:194948423..194950004,2	K562	blood:
3	chr3:194941162..194944048-chr3:194944539..194948128,3	K562	blood:
4	chr3:194941540..194944139-chr3:194945711..194947318,2	K562	blood:
5	chr3:194942154..194945109-chr3:194956482..194959428,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10933702	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10933703	0.85[EUR][1000 genomes]
rs11917438	0.85[EUR][1000 genomes]
rs11918143	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11919965	0.98[ASN][1000 genomes]
rs11921174	0.98[ASN][1000 genomes]
rs11922694	0.80[AFR][1000 genomes]
rs11923931	0.83[AFR][1000 genomes]
rs11928199	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12485302	0.82[ASN][1000 genomes]
rs12485800	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12486168	0.85[EUR][1000 genomes]
rs12486220	0.85[EUR][1000 genomes]
rs12486636	1.00[EUR][1000 genomes]
rs12486835	0.85[EUR][1000 genomes]
rs12488616	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12491426	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12491902	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12492289	0.92[AMR][1000 genomes]
rs12492644	0.91[ASN][1000 genomes]
rs12493888	0.95[EUR][1000 genomes]
rs12494306	0.92[ASN][1000 genomes]
rs12495659	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12496628	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12497444	1.00[EUR][1000 genomes]
rs12497906	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12498063	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1808074	0.82[ASN][1000 genomes]
rs35899174	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3773419	0.82[ASN][1000 genomes]
rs3773420	0.82[ASN][1000 genomes]
rs56281422	1.00[EUR][1000 genomes]
rs56835677	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57602429	0.83[AFR][1000 genomes]
rs58113840	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59314385	0.80[AFR][1000 genomes]
rs59579668	0.85[EUR][1000 genomes]
rs60382109	0.82[AFR][1000 genomes]
rs60677730	1.00[EUR][1000 genomes]
rs60999733	0.83[AFR][1000 genomes]
rs61022222	0.95[EUR][1000 genomes]
rs6437466	0.85[EUR][1000 genomes]
rs66510151	0.95[EUR][1000 genomes]
rs67388686	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67413252	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67484513	0.95[EUR][1000 genomes]
rs6777904	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6785108	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6804467	0.98[ASN][1000 genomes]
rs72499624	0.95[EUR][1000 genomes]
rs72499625	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72607893	0.85[ASN][1000 genomes]
rs72607894	0.84[ASN][1000 genomes]
rs72607896	0.82[ASN][1000 genomes]
rs72607897	0.82[ASN][1000 genomes]
rs72607898	0.82[ASN][1000 genomes]
rs72607899	0.82[ASN][1000 genomes]
rs72607900	0.82[ASN][1000 genomes]
rs72607901	0.82[ASN][1000 genomes]
rs72607902	0.82[ASN][1000 genomes]
rs73069019	0.92[AMR][1000 genomes]
rs755202	0.85[ASN][1000 genomes]
rs7624032	0.83[AFR][1000 genomes]
rs7642127	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs999331	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194918800-194945000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:194919400-194945200	Weak transcription	Thymus	Thymus
3	chr3:194926400-194947600	Weak transcription	Gastric	stomach
4	chr3:194929800-194947400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:194931400-194945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:194931600-194946600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:194931800-194944200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:194931800-194945200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:194931800-194956600	Weak transcription	K562	blood
12	chr3:194932400-194944000	Weak transcription	HSMM	muscle
13	chr3:194932600-194944000	Weak transcription	NHLF	lung
14	chr3:194935000-194944000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:194935600-194945200	Weak transcription	Fetal Brain Female	brain
16	chr3:194939200-194947600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:194939600-194948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:194940200-194944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:194940200-194946000	Enhancers	Placenta	Placenta
20	chr3:194940400-194945600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:194940400-194948200	Weak transcription	Fetal Kidney	kidney
22	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
23	chr3:194940600-194944000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:194940600-194944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:194940600-194944800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:194940600-194945200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
28	chr3:194940800-194944000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:194940800-194944000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:194940800-194944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:194940800-194945200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:194940800-194945600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:194940800-194946800	Weak transcription	Brain Germinal Matrix	brain
34	chr3:194941400-194944000	Enhancers	Adipose Nuclei	Adipose
35	chr3:194941400-194945800	Weak transcription	Dnd41	blood
36	chr3:194941600-194945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:194941800-194945800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:194941800-194945800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:194942000-194945000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:194942000-194945400	Enhancers	Left Ventricle	heart
41	chr3:194942000-194945400	Enhancers	Osteobl	bone
42	chr3:194942000-194945800	Enhancers	NHDF-Ad	bronchial
43	chr3:194942200-194944200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:194942200-194952400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:194942400-194945400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:194942400-194945800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:194942400-194946000	Enhancers	HUVEC	blood vessel
48	chr3:194942600-194944000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:194942600-194944000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:194942600-194944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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