Variant report

Variant	rs547743895
Chromosome Location	chr4:48781355-48781356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48590381..48593753-chr4:48779651..48782070,3	K562	blood:
2	chr4:48683162..48685673-chr4:48779626..48783041,3	MCF-7	breast:
3	chr4:48780694..48783941-chr4:48830567..48835952,11	MCF-7	breast:
4	chr4:48780685..48782941-chr4:48832386..48835907,3	MCF-7	breast:
5	chr4:48590381..48593242-chr4:48779651..48782070,2	K562	blood:
6	chr4:48779823..48782624-chr4:48905090..48909886,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145247	Chromatin interaction
ENSG00000109180	Chromatin interaction
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3395020	chr4:48780220-48782968	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48778600-48783400	Active TSS	Brain Substantia Nigra	brain
2	chr4:48778800-48781400	Active TSS	Right Atrium	heart
3	chr4:48778800-48783200	Active TSS	GM12878-XiMat	blood
4	chr4:48778800-48783600	Active TSS	Right Ventricle	heart
5	chr4:48779200-48783400	Active TSS	Aorta	Aorta
6	chr4:48779200-48783600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr4:48779400-48783400	Active TSS	Brain Angular Gyrus	brain
8	chr4:48779600-48783000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:48779600-48783200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr4:48779600-48783600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:48779800-48781400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr4:48779800-48781400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr4:48779800-48783400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:48779800-48783400	Active TSS	HSMM	muscle
15	chr4:48780000-48783000	Active TSS	HMEC	breast
16	chr4:48780000-48783200	Active TSS	Brain Hippocampus Middle	brain
17	chr4:48780000-48783200	Active TSS	Left Ventricle	heart
18	chr4:48780000-48783200	Active TSS	NHDF-Ad	bronchial
19	chr4:48780000-48783400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr4:48780000-48783400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:48780000-48783600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:48780000-48783600	Active TSS	HSMMtube	muscle
23	chr4:48780000-48783800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr4:48780200-48782800	Active TSS	Fetal Thymus	thymus
25	chr4:48780200-48783000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr4:48780200-48783000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:48780200-48783000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:48780200-48783000	Active TSS	Brain Anterior Caudate	brain
29	chr4:48780200-48783000	Active TSS	Brain Cingulate Gyrus	brain
30	chr4:48780200-48783000	Active TSS	Fetal Brain Female	brain
31	chr4:48780200-48783200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:48780200-48783200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:48780200-48783200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr4:48780200-48783200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:48780200-48783200	Active TSS	Colonic Mucosa	Colon
36	chr4:48780200-48783200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:48780200-48783200	Active TSS	Fetal Intestine Large	intestine
38	chr4:48780200-48783200	Active TSS	Fetal Kidney	kidney
39	chr4:48780200-48783200	Active TSS	Fetal Muscle Leg	muscle
40	chr4:48780200-48783200	Active TSS	NHLF	lung
41	chr4:48780200-48783400	Active TSS	Fetal Intestine Small	intestine
42	chr4:48780200-48783400	Active TSS	Ovary	ovary
43	chr4:48780200-48783400	Active TSS	Psoas Muscle	Psoas
44	chr4:48780200-48783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:48780400-48781400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:48780400-48782200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:48780400-48783000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:48780400-48783000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:48780400-48783000	Active TSS	Dnd41	blood
50	chr4:48780400-48783000	Active TSS	NHEK	skin

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