Variant report

Variant	rs141193048
Chromosome Location	chr7:105120509-105120510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105116272..105117859-chr7:105118414..105120932,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
7	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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 target site	30 gene(s)	inside rSNPs	diseases
21	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
23	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
2	chr7:105080200-105126800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
4	chr7:105088200-105152800	Weak transcription	Gastric	stomach
5	chr7:105088400-105140400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:105089200-105127000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
8	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:105090000-105126800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:105090000-105128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
13	chr7:105094800-105137200	Weak transcription	Fetal Kidney	kidney
14	chr7:105095000-105128200	Weak transcription	Primary B cells from cord blood	blood
15	chr7:105095200-105140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:105095200-105142600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:105095600-105128400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:105095600-105128400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:105096000-105126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:105096000-105127600	Weak transcription	NHLF	lung
21	chr7:105096000-105141000	Weak transcription	Colonic Mucosa	Colon
22	chr7:105096200-105128200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:105096400-105128000	Weak transcription	Brain Substantia Nigra	brain
24	chr7:105096400-105145600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:105098200-105151200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:105098600-105121000	Weak transcription	Brain Germinal Matrix	brain
27	chr7:105098600-105128400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:105099400-105130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:105099800-105127600	Weak transcription	NHDF-Ad	bronchial
30	chr7:105099800-105153000	Weak transcription	Psoas Muscle	Psoas
31	chr7:105100000-105141800	Weak transcription	Placenta	Placenta
32	chr7:105102000-105121000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:105102400-105120600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:105102400-105128000	Weak transcription	Fetal Lung	lung
35	chr7:105102400-105134000	Weak transcription	Aorta	Aorta
36	chr7:105102400-105134000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:105102400-105140800	Weak transcription	Right Ventricle	heart
38	chr7:105102800-105126800	Weak transcription	Ovary	ovary
39	chr7:105103000-105126400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:105103200-105126200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:105105200-105126200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:105105200-105126200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:105105200-105126400	Weak transcription	Fetal Brain Female	brain
44	chr7:105105200-105128200	Weak transcription	Fetal Brain Male	brain
45	chr7:105106000-105121400	Weak transcription	NH-A	brain
46	chr7:105107400-105121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:105111200-105128200	Weak transcription	HSMMtube	muscle
48	chr7:105111400-105120800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:105111400-105122600	Weak transcription	GM12878-XiMat	blood
50	chr7:105111600-105120600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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