Variant report

Variant	rs539008623
Chromosome Location	chr3:194945831-194945832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194945629..194947428-chr3:194950514..194952678,2	K562	blood:
2	chr3:194941162..194944048-chr3:194944539..194948128,3	K562	blood:
3	chr3:194885157..194887367-chr3:194945162..194946725,2	K562	blood:
4	chr3:194941540..194944139-chr3:194945711..194947318,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194926400-194947600	Weak transcription	Gastric	stomach
2	chr3:194929800-194947400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:194931200-194948800	Weak transcription	Fetal Intestine Large	intestine
4	chr3:194931600-194946600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:194931600-194958800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:194931800-194956600	Weak transcription	K562	blood
7	chr3:194939200-194947600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:194939600-194948200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:194940200-194946000	Enhancers	Placenta	Placenta
10	chr3:194940400-194948200	Weak transcription	Fetal Kidney	kidney
11	chr3:194940400-194949600	Weak transcription	Colonic Mucosa	Colon
12	chr3:194940600-194959000	Weak transcription	Right Ventricle	heart
13	chr3:194940800-194946800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:194942200-194952400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:194942400-194946000	Enhancers	HUVEC	blood vessel
16	chr3:194942600-194948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:194942800-194946000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:194942800-194946200	Weak transcription	Brain Anterior Caudate	brain
19	chr3:194943000-194947400	Weak transcription	Fetal Lung	lung
20	chr3:194943000-194947600	Weak transcription	Fetal Heart	heart
21	chr3:194943000-194947800	Weak transcription	Esophagus	oesophagus
22	chr3:194943000-194948000	Weak transcription	Pancreas	Pancrea
23	chr3:194943000-194948600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:194943000-194951000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:194943200-194948000	Weak transcription	GM12878-XiMat	blood
26	chr3:194943600-194947600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:194944000-194946000	Enhancers	Colon Smooth Muscle	Colon
28	chr3:194944000-194948000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:194944200-194946000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:194944200-194946600	Strong transcription	Primary T cells from cord blood	blood
31	chr3:194944400-194947800	Strong transcription	Fetal Intestine Small	intestine
32	chr3:194944600-194947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:194944600-194949400	Weak transcription	NHEK	skin
34	chr3:194944600-194959000	Weak transcription	Ovary	ovary
35	chr3:194944800-194947400	Genic enhancers	Fetal Thymus	thymus
36	chr3:194945000-194946000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:194945000-194946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:194945000-194946400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr3:194945000-194946400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr3:194945000-194947800	Strong transcription	Fetal Stomach	stomach
41	chr3:194945000-194949800	Weak transcription	Brain Hippocampus Middle	brain
42	chr3:194945200-194946000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr3:194945200-194946200	Strong transcription	Thymus	Thymus
44	chr3:194945200-194947000	Weak transcription	Adipose Nuclei	Adipose
45	chr3:194945200-194947200	Weak transcription	Lung	lung
46	chr3:194945200-194947400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:194945200-194947800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:194945200-194948000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:194945200-194948000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:194945200-194948400	Strong transcription	Fetal Brain Female	brain

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