Variant report

Variant	rs376400028
Chromosome Location	chr8:48925960-48925961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48920860..48923835-chr8:48924077..48926728,4	MCF-7	breast:
2	chr8:48924792..48926393-chr8:48927338..48929721,2	K562	blood:
3	chr8:48919638..48923031-chr8:48924229..48928095,7	MCF-7	breast:
4	chr8:48924342..48926810-chr8:48928221..48931397,3	K562	blood:
5	chr8:48923260..48926236-chr8:48933537..48935762,2	K562	blood:
6	chr8:48881714..48884143-chr8:48924954..48927887,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169139	Chromatin interaction
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv968508	chr8:48924846-48957474	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48921600-48931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:48921600-48931800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:48921600-48932400	Weak transcription	Spleen	Spleen
4	chr8:48921600-48932800	Weak transcription	Left Ventricle	heart
5	chr8:48921600-48934200	Weak transcription	Lung	lung
6	chr8:48921600-48956000	Weak transcription	Esophagus	oesophagus
7	chr8:48921600-48957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:48921800-48931200	Weak transcription	Ovary	ovary
9	chr8:48921800-48931800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48921800-48936200	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:48921800-48943600	Weak transcription	Aorta	Aorta
12	chr8:48921800-48957400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:48921800-48957400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:48921800-48957400	Weak transcription	Stomach Mucosa	stomach
15	chr8:48921800-48960600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:48921800-48966800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:48922000-48931800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:48922000-48931800	Weak transcription	Right Ventricle	heart
19	chr8:48922000-48931800	Weak transcription	Thymus	Thymus
20	chr8:48922000-48932600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:48922000-48957600	Weak transcription	Colonic Mucosa	Colon
22	chr8:48922200-48931400	Weak transcription	Placenta	Placenta
23	chr8:48922200-48931800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:48922200-48932600	Weak transcription	Fetal Intestine Large	intestine
25	chr8:48922200-48932600	Weak transcription	Gastric	stomach
26	chr8:48922200-48932800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:48922200-48934000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr8:48922200-48934200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr8:48922200-48934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:48922200-48945000	Weak transcription	Psoas Muscle	Psoas
31	chr8:48922200-48947400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:48922400-48926400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:48922400-48926400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:48922400-48927200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:48922400-48930600	Weak transcription	Fetal Kidney	kidney
36	chr8:48922400-48930800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:48922400-48930800	Weak transcription	Fetal Heart	heart
38	chr8:48922400-48931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:48922400-48931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:48922400-48931800	Weak transcription	Fetal Lung	lung
41	chr8:48922400-48932400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:48922400-48932600	Weak transcription	Brain Angular Gyrus	brain
43	chr8:48922400-48932600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:48922400-48932800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:48922400-48932800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:48922400-48934200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:48922400-48934400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:48922400-48934800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:48922400-48934800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:48922400-48942200	Weak transcription	Brain Hippocampus Middle	brain

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