Variant report

Variant	rs11923931
Chromosome Location	chr3:194948719-194948720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:194942662..194945263-chr3:194948423..194950004,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11922694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11927247	0.94[AFR][1000 genomes]
rs11928199	0.94[AFR][1000 genomes]
rs12497906	0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs12498063	0.80[AFR][1000 genomes]
rs2095968	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57602429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57844873	0.94[AFR][1000 genomes]
rs59314385	0.97[AFR][1000 genomes]
rs60382109	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60999733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6790425	0.83[AFR][1000 genomes]
rs7624032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7626520	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	nsv984539	chr3:194945800-194984579	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
2	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:194931800-194956600	Weak transcription	K562	blood
4	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
5	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
6	chr3:194942200-194952400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:194943000-194951000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:194944600-194949400	Weak transcription	NHEK	skin
9	chr3:194944600-194959000	Weak transcription	Ovary	ovary
10	chr3:194945000-194949800	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:194945200-194949200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:194945200-194957200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:194945200-194958800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:194945200-194959200	Weak transcription	NHLF	lung
15	chr3:194945400-194949200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:194945400-194954000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:194945400-194958800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:194945400-194959200	Weak transcription	Osteobl	bone
19	chr3:194945400-194971600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:194945600-194957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:194945600-194959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:194945800-194949400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:194946000-194957600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:194946000-194958800	Weak transcription	Aorta	Aorta
25	chr3:194946000-194958800	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:194946000-194959000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:194946000-194971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:194946200-194956600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:194946400-194957800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:194947000-194959000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:194947200-194949000	Enhancers	Primary hematopoietic stem cells	blood
32	chr3:194947200-194956600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:194947400-194949000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr3:194947400-194949000	Enhancers	Fetal Thymus	thymus
35	chr3:194947400-194949400	Enhancers	Placenta	Placenta
36	chr3:194947600-194949000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:194947600-194949000	Enhancers	Fetal Heart	heart
38	chr3:194947600-194949200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:194947600-194949600	Weak transcription	Brain Anterior Caudate	brain
40	chr3:194947600-194950200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:194947600-194950600	Weak transcription	Brain Germinal Matrix	brain
42	chr3:194947600-194955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:194947600-194956800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:194947600-194957000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:194947600-194957400	Weak transcription	Dnd41	blood
46	chr3:194947600-194957600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:194947600-194957600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr3:194947600-194957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:194947600-194962200	Weak transcription	Hela-S3	cervix
50	chr3:194947800-194948800	Weak transcription	Fetal Intestine Small	intestine

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