Variant report

Variant	rs545388110
Chromosome Location	chr3:93848258-93848259
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	chr3:93846656..93848871-chr3:93849407..93851591,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869241	chr3:93527675-94504491	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv998173	chr3:93575084-94427403	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv536644	chr3:93575084-94427403	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1008711	chr3:93575284-94427264	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv536646	chr3:93575284-94427264	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv491829	chr3:93575285-94427263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1795060	chr3:93602038-93848525	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
8	esv1791740	chr3:93602927-93849247	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a
9	esv2755326	chr3:93605126-93882750	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	n/a
10	nsv1013107	chr3:93654100-94102212	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv536648	chr3:93654100-94102212	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
12	nsv1004176	chr3:93654100-94502551	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv877162	chr3:93779664-94278078	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv877163	chr3:93795972-94047775	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv967038	chr3:93847327-93850363	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93782800-93849400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:93783200-93851600	Weak transcription	HMEC	breast
3	chr3:93786800-93849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:93796000-93857800	Weak transcription	Fetal Brain Male	brain
5	chr3:93799000-93851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:93800200-93851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:93802400-93849600	Weak transcription	Stomach Mucosa	stomach
8	chr3:93802600-93851800	Weak transcription	Small Intestine	intestine
9	chr3:93808400-93849600	Weak transcription	Fetal Heart	heart
10	chr3:93812400-93852200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:93814600-93849400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:93814600-93849400	Weak transcription	Right Ventricle	heart
13	chr3:93814600-93849600	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:93814600-93849800	Weak transcription	Colonic Mucosa	Colon
15	chr3:93814800-93857800	Weak transcription	Pancreas	Pancrea
16	chr3:93815600-93848400	Weak transcription	Placenta	Placenta
17	chr3:93817400-93849600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:93818000-93850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:93819400-93850400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:93823600-93849800	Weak transcription	HSMMtube	muscle
21	chr3:93823600-93857600	Weak transcription	Fetal Brain Female	brain
22	chr3:93826400-93851800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:93826800-93851400	Weak transcription	Hela-S3	cervix
24	chr3:93828800-93856000	Weak transcription	HSMM	muscle
25	chr3:93831600-93849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:93831600-93849800	Weak transcription	Fetal Lung	lung
27	chr3:93831600-93851000	Weak transcription	Fetal Kidney	kidney
28	chr3:93831600-93851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:93831600-93856000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:93831600-93856200	Weak transcription	Ovary	ovary
31	chr3:93831800-93850600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:93831800-93851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:93833200-93851600	Weak transcription	NHEK	skin
34	chr3:93833200-93852000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:93834400-93848800	Weak transcription	NHDF-Ad	bronchial
36	chr3:93835200-93850600	Weak transcription	Brain Anterior Caudate	brain
37	chr3:93838400-93849600	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:93839400-93848400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:93839600-93849600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:93840000-93851600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:93840200-93849400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:93840400-93849400	Weak transcription	Left Ventricle	heart
43	chr3:93842200-93848400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:93842200-93848400	Strong transcription	GM12878-XiMat	blood
45	chr3:93842600-93851800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:93842800-93849800	Weak transcription	Dnd41	blood
47	chr3:93843000-93848400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr3:93843400-93848400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:93843600-93849600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:93843600-93851000	Weak transcription	Aorta	Aorta

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