Variant report

Variant	rs538904710
Chromosome Location	chr3:46975416-46975417
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46970409..46973424-chr3:46974292..46976174,3	K562	blood:
2	chr3:46967009..46980239-chr3:47015804..47024437,23	MCF-7	breast:
3	chr3:46973841..46975600-chr3:47001098..47002983,2	MCF-7	breast:
4	chr3:46974607..46976308-chr3:47009636..47011674,2	K562	blood:
5	chr3:46964203..46969117-chr3:46974530..46977361,4	K562	blood:
6	chr3:46974856..46983636-chr3:47025231..47032249,9	K562	blood:
7	chr3:46971793..46974784-chr3:46975168..46977943,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160796	Chromatin interaction
ENSG00000160799	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	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
4	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases
6	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46964600-46975600	Weak transcription	Fetal Brain Male	brain
2	chr3:46967400-46975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:46967400-46976000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:46967400-46976400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr3:46967400-46984400	Genic enhancers	Fetal Intestine Small	intestine
6	chr3:46967800-46976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:46968000-46978800	Enhancers	Stomach Mucosa	stomach
8	chr3:46968400-46975800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:46968400-46976600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:46968400-46977600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:46969200-46976600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:46969200-46976600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:46969400-46978400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:46969600-46977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:46970200-46976800	Enhancers	Brain Hippocampus Middle	brain
16	chr3:46970200-46978600	Enhancers	Right Ventricle	heart
17	chr3:46970400-46976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:46970400-46977600	Enhancers	Liver	Liver
19	chr3:46970400-46977800	Enhancers	Pancreas	Pancrea
20	chr3:46970600-46977600	Enhancers	Brain Angular Gyrus	brain
21	chr3:46970800-46975800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr3:46970800-46976200	Enhancers	Spleen	Spleen
23	chr3:46970800-46977400	Enhancers	Placenta	Placenta
24	chr3:46970800-46977600	Enhancers	Left Ventricle	heart
25	chr3:46970800-46977600	Enhancers	Lung	lung
26	chr3:46970800-46977800	Enhancers	NHDF-Ad	bronchial
27	chr3:46970800-46979400	Enhancers	HUVEC	blood vessel
28	chr3:46970800-46984200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:46971000-46975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:46971000-46976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:46971200-46975800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:46971200-46976200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:46971200-46976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:46971200-46988400	Strong transcription	Dnd41	blood
35	chr3:46971400-46977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:46971600-46975800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr3:46971600-46976800	Enhancers	Fetal Lung	lung
38	chr3:46971600-46977400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:46971600-46977800	Enhancers	Esophagus	oesophagus
40	chr3:46971600-46978600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:46971800-46975800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:46971800-46975800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:46971800-46976200	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:46971800-46976200	Enhancers	Gastric	stomach
45	chr3:46971800-46976800	Genic enhancers	Fetal Thymus	thymus
46	chr3:46971800-46977600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr3:46971800-46977600	Enhancers	Ovary	ovary
48	chr3:46971800-46978000	Genic enhancers	Fetal Stomach	stomach
49	chr3:46971800-46978000	Enhancers	Small Intestine	intestine
50	chr3:46971800-46980000	Enhancers	Psoas Muscle	Psoas

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