Variant report

Variant	rs541498268
Chromosome Location	chr3:194821758-194821759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194817020..194819382-chr3:194820062..194821788,3	K562	blood:
2	chr3:194817667..194819291-chr3:194820083..194822467,2	MCF-7	breast:
3	chr3:194735046..194736581-chr3:194820848..194823359,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	esv3344968	chr3:194821488-194824036	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194791000-194821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:194802000-194826800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:194806800-194826400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:194808400-194823000	Weak transcription	Adipose Nuclei	Adipose
5	chr3:194808600-194823000	Weak transcription	K562	blood
6	chr3:194808600-194827000	Weak transcription	Fetal Brain Female	brain
7	chr3:194808800-194824800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:194814400-194823000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:194814600-194827800	Enhancers	Fetal Heart	heart
10	chr3:194815200-194826800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:194815400-194827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:194815800-194824400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:194815800-194827000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
15	chr3:194816000-194823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr3:194816000-194826800	Weak transcription	Fetal Stomach	stomach
17	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:194816200-194823000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:194816200-194823600	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:194816200-194824000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:194816200-194825000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:194816400-194823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:194816400-194823600	Weak transcription	HSMMtube	muscle
24	chr3:194816400-194825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:194816400-194827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:194816600-194826800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:194816800-194824200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:194817200-194823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:194817200-194831200	Weak transcription	Gastric	stomach
30	chr3:194817400-194823000	Weak transcription	Fetal Intestine Small	intestine
31	chr3:194817400-194824400	Weak transcription	HepG2	liver
32	chr3:194817600-194825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:194817800-194823000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:194818200-194822000	Enhancers	Primary B cells from cord blood	blood
35	chr3:194818200-194828800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr3:194818400-194822600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:194818600-194824400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:194818800-194826200	Weak transcription	Thymus	Thymus
39	chr3:194819000-194823600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:194819000-194823600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:194819000-194826800	Weak transcription	Dnd41	blood
42	chr3:194820200-194823200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:194820600-194824000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:194820800-194822000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:194820800-194822000	Enhancers	Fetal Muscle Trunk	muscle
46	chr3:194820800-194822000	Enhancers	Lung	lung
47	chr3:194820800-194823000	Enhancers	Hela-S3	cervix
48	chr3:194820800-194827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:194821000-194821800	Enhancers	Left Ventricle	heart
50	chr3:194821000-194821800	Enhancers	Right Atrium	heart

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