Variant report

Variant	rs3980719
Chromosome Location	chr7:66484992-66484993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66460373..66463092-chr7:66483549..66485094,2	K562	blood:

Variant related genes	Relation type
ENSG00000198874	Chromatin interaction
ENSG00000126524	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv981515	chr7:66477535-66532313	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv1848278	chr7:66482884-66494472	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv16229	chr7:66484196-66486746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
4	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
5	chr7:66462600-66487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
8	chr7:66463000-66487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
10	chr7:66463200-66487400	Weak transcription	NH-A	brain
11	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:66470000-66489000	Strong transcription	Fetal Intestine Small	intestine
14	chr7:66470200-66488200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:66470200-66488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:66470200-66488400	Strong transcription	Fetal Stomach	stomach
17	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:66470400-66488000	Strong transcription	Dnd41	blood
19	chr7:66470400-66489000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:66470600-66485400	Strong transcription	Placenta	Placenta
22	chr7:66470600-66492600	Strong transcription	Liver	Liver
23	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:66472400-66485400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:66472600-66487000	Weak transcription	A549	lung
26	chr7:66474000-66492200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:66475200-66485600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:66476000-66486600	Strong transcription	Left Ventricle	heart
29	chr7:66476600-66487400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:66476800-66496800	Weak transcription	NHLF	lung
31	chr7:66477000-66495000	Weak transcription	Right Ventricle	heart
32	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
33	chr7:66478000-66488200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr7:66478000-66488400	Strong transcription	Fetal Intestine Large	intestine
35	chr7:66478200-66485000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:66478400-66488000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:66478400-66488000	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:66478400-66488000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:66478400-66490800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:66478800-66489800	Weak transcription	Osteobl	bone
41	chr7:66478800-66494600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:66479200-66487400	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:66479400-66486800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:66479600-66486600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:66480400-66494800	Weak transcription	Fetal Kidney	kidney
46	chr7:66480800-66494800	Weak transcription	Pancreas	Pancrea
47	chr7:66481600-66488000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:66481800-66485000	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:66482000-66487400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:66482000-66488200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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