Variant report

Variant	rs575124465
Chromosome Location	chr3:50163319-50163320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50160874..50163640-chr3:50208443..50212191,3	MCF-7	breast:
2	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
3	chr3:50157879..50160528-chr3:50162974..50166130,4	K562	blood:
4	chr3:50160998..50164207-chr3:50182321..50186383,5	MCF-7	breast:
5	chr3:50159660..50164036-chr3:50192840..50194687,5	MCF-7	breast:
6	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
7	chr3:50157840..50167526-chr3:50182100..50196634,43	MCF-7	breast:
8	chr3:50162229..50165038-chr3:50305683..50307880,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235016	Chromatin interaction
ENSG00000001617	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000207922	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv818139	chr3:50144951-50174572	Weak transcription Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
8	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
11	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
12	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
13	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
14	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
15	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
16	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
17	esv3346703	chr3:50161798-50164121	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3356709	chr3:50162298-50163696	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50151000-50176400	Weak transcription	Right Atrium	heart
2	chr3:50156400-50163800	Weak transcription	K562	blood
3	chr3:50157800-50164400	Weak transcription	Small Intestine	intestine
4	chr3:50158600-50164200	Weak transcription	Aorta	Aorta
5	chr3:50158600-50164400	Weak transcription	HSMMtube	muscle
6	chr3:50159200-50163800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr3:50159200-50165000	Enhancers	Placenta	Placenta
8	chr3:50159200-50165200	Enhancers	Fetal Lung	lung
9	chr3:50159400-50163400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:50159600-50163400	Weak transcription	HepG2	liver
11	chr3:50159600-50164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:50159800-50164200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:50159800-50168600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr3:50160000-50163600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:50160600-50164400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:50160600-50165000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:50160800-50164600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:50160800-50164600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:50160800-50165000	Enhancers	Hela-S3	cervix
20	chr3:50161000-50164400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr3:50161000-50164800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:50161200-50163600	Weak transcription	Right Ventricle	heart
23	chr3:50161200-50164000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:50161200-50164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:50161200-50164600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:50161200-50164600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr3:50161200-50164800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:50161200-50164800	Enhancers	A549	lung
29	chr3:50161400-50163600	Weak transcription	Gastric	stomach
30	chr3:50161400-50163800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr3:50161400-50164000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:50161400-50164600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:50161400-50165000	Enhancers	Fetal Stomach	stomach
34	chr3:50161400-50165200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:50161400-50165200	Enhancers	Lung	lung
36	chr3:50161400-50165200	Enhancers	Stomach Smooth Muscle	stomach
37	chr3:50161600-50163600	Weak transcription	Pancreas	Pancrea
38	chr3:50161600-50164200	Weak transcription	Thymus	Thymus
39	chr3:50161600-50164800	Enhancers	Spleen	Spleen
40	chr3:50161800-50163800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:50161800-50164600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:50161800-50164600	Enhancers	Brain Hippocampus Middle	brain
43	chr3:50161800-50165000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr3:50161800-50165000	Enhancers	Ovary	ovary
45	chr3:50161800-50165800	Enhancers	Brain Germinal Matrix	brain
46	chr3:50162000-50164000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:50162000-50164000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:50162000-50164400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:50162000-50164400	Enhancers	Fetal Thymus	thymus
50	chr3:50162000-50164400	Enhancers	NH-A	brain

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