Variant report

Variant	rs554928400
Chromosome Location	chr4:103420519-103420520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103420331..103423503-chr4:103475320..103478755,3	MCF-7	breast:
2	chr4:103419348..103423957-chr4:103746554..103750456,7	MCF-7	breast:
3	chr4:103418457..103421752-chr4:103450464..103454174,4	MCF-7	breast:
4	chr4:103420299..103423075-chr4:103789443..103791523,3	K562	blood:
5	chr4:103419957..103425638-chr4:103495824..103504548,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109332	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000246560	Chromatin interaction
ENSG00000109320	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1004030	chr4:103419352-103504042	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537203	chr4:103419352-103504042	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103415200-103421200	Weak transcription	Brain Substantia Nigra	brain
2	chr4:103415200-103421200	Weak transcription	Left Ventricle	heart
3	chr4:103415200-103421200	Weak transcription	Pancreas	Pancrea
4	chr4:103415200-103421200	Weak transcription	Psoas Muscle	Psoas
5	chr4:103415200-103421400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:103415200-103421400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:103415200-103421400	Weak transcription	HMEC	breast
8	chr4:103415400-103421200	Weak transcription	Brain Angular Gyrus	brain
9	chr4:103415400-103421200	Weak transcription	Stomach Mucosa	stomach
10	chr4:103415400-103421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:103415400-103421400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:103415400-103421800	Weak transcription	Dnd41	blood
13	chr4:103416000-103421200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:103416000-103421200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:103416000-103421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:103416000-103421400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:103416000-103421400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:103417600-103421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:103418400-103421400	Weak transcription	Fetal Kidney	kidney
20	chr4:103418400-103421400	Weak transcription	Ovary	ovary
21	chr4:103418400-103421400	Weak transcription	K562	blood
22	chr4:103418600-103421200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:103418800-103421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:103419400-103421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:103419600-103421400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:103419600-103421400	Weak transcription	NHEK	skin
27	chr4:103419800-103420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:103419800-103421400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:103419800-103421600	Weak transcription	Lung	lung
30	chr4:103420200-103421200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:103420200-103421400	Enhancers	Colon Smooth Muscle	Colon
32	chr4:103420400-103420600	Enhancers	Brain Anterior Caudate	brain
33	chr4:103420400-103420600	Enhancers	Brain Cingulate Gyrus	brain
34	chr4:103420400-103420600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:103420400-103420600	Enhancers	Fetal Heart	heart
36	chr4:103420400-103420600	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:103420400-103421400	Enhancers	Fetal Intestine Large	intestine
38	chr4:103420400-103421800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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