Variant report

Variant	rs191847800
Chromosome Location	chr3:50162451-50162452
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50160874..50163640-chr3:50208443..50212191,3	MCF-7	breast:
2	chr3:50159863..50162699-chr3:50227102..50229015,2	MCF-7	breast:
3	chr3:50157890..50164898-chr3:50186493..50191745,15	MCF-7	breast:
4	chr3:50126440..50128004-chr3:50161064..50162835,2	MCF-7	breast:
5	chr3:50160998..50164207-chr3:50182321..50186383,5	MCF-7	breast:
6	chr3:50160721..50162724-chr3:50168795..50173383,5	K562	blood:
7	chr3:50161160..50162683-chr3:50271555..50274143,2	MCF-7	breast:
8	chr3:50159660..50164036-chr3:50192840..50194687,5	MCF-7	breast:
9	chr3:50159102..50161217-chr3:50161241..50163893,2	MCF-7	breast:
10	chr3:50160797..50162684-chr3:50168795..50170458,2	K562	blood:
11	chr3:50157840..50167526-chr3:50182100..50196634,43	MCF-7	breast:
12	chr3:50161300..50163134-chr3:50195216..50197721,2	MCF-7	breast:
13	chr3:50160236..50162661-chr3:50199284..50201968,2	MCF-7	breast:
14	chr3:50161158..50162921-chr3:50305977..50308672,2	MCF-7	breast:
15	chr3:50160600..50163125-chr3:50165110..50166972,2	K562	blood:
16	chr3:50162229..50165038-chr3:50305683..50307880,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114353	Chromatin interaction
ENSG00000207922	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000001617	Chromatin interaction
ENSG00000003756	Chromatin interaction
ENSG00000235016	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50143200-50163200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:50151000-50176400	Weak transcription	Right Atrium	heart
3	chr3:50156400-50163800	Weak transcription	K562	blood
4	chr3:50157800-50163200	Weak transcription	Brain Substantia Nigra	brain
5	chr3:50157800-50164400	Weak transcription	Small Intestine	intestine
6	chr3:50158600-50163200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:50158600-50163200	Weak transcription	Left Ventricle	heart
8	chr3:50158600-50164200	Weak transcription	Aorta	Aorta
9	chr3:50158600-50164400	Weak transcription	HSMMtube	muscle
10	chr3:50158800-50162600	Weak transcription	Primary B cells from cord blood	blood
11	chr3:50159200-50162600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:50159200-50163200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:50159200-50163800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:50159200-50165000	Enhancers	Placenta	Placenta
15	chr3:50159200-50165200	Enhancers	Fetal Lung	lung
16	chr3:50159400-50162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:50159400-50162800	Weak transcription	Fetal Brain Male	brain
18	chr3:50159400-50163400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:50159600-50163200	Enhancers	Fetal Muscle Leg	muscle
20	chr3:50159600-50163400	Weak transcription	HepG2	liver
21	chr3:50159600-50164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:50159800-50164200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:50159800-50168600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:50160000-50162800	Enhancers	Esophagus	oesophagus
25	chr3:50160000-50163600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:50160200-50163200	Weak transcription	Fetal Brain Female	brain
27	chr3:50160600-50163000	Weak transcription	Colonic Mucosa	Colon
28	chr3:50160600-50164400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:50160600-50165000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:50160800-50162600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:50160800-50164600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr3:50160800-50164600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:50160800-50165000	Enhancers	Hela-S3	cervix
34	chr3:50161000-50162600	Enhancers	NHEK	skin
35	chr3:50161000-50164400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr3:50161000-50164800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:50161200-50162800	Weak transcription	Primary T cells from cord blood	blood
38	chr3:50161200-50163600	Weak transcription	Right Ventricle	heart
39	chr3:50161200-50164000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:50161200-50164200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:50161200-50164600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr3:50161200-50164600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr3:50161200-50164800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr3:50161200-50164800	Enhancers	A549	lung
45	chr3:50161400-50162600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:50161400-50162600	Enhancers	HMEC	breast
47	chr3:50161400-50163600	Weak transcription	Gastric	stomach
48	chr3:50161400-50163800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr3:50161400-50164000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:50161400-50164600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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