Variant report

Variant	rs530099218
Chromosome Location	chr4:103419437-103419438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:103419418-103419520	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103419348..103423957-chr4:103746554..103750456,7	MCF-7	breast:
2	chr4:103418457..103421752-chr4:103450464..103454174,4	MCF-7	breast:
3	chr4:103418260..103419905-chr4:103421285..103422966,3	MCF-7	breast:

Variant related genes	Relation type
NFKB1	TF binding region
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction
ENSG00000246560	Chromatin interaction
ENSG00000109332	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103415200-103420400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:103415200-103421200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:103415200-103421200	Weak transcription	Left Ventricle	heart
4	chr4:103415200-103421200	Weak transcription	Pancreas	Pancrea
5	chr4:103415200-103421200	Weak transcription	Psoas Muscle	Psoas
6	chr4:103415200-103421400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:103415200-103421400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:103415200-103421400	Weak transcription	HMEC	breast
9	chr4:103415400-103421200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:103415400-103421200	Weak transcription	Stomach Mucosa	stomach
11	chr4:103415400-103421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:103415400-103421400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:103415400-103421800	Weak transcription	Dnd41	blood
14	chr4:103416000-103421200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:103416000-103421200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:103416000-103421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:103416000-103421400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:103416000-103421400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:103417600-103419800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:103417600-103421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:103418200-103419800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:103418400-103419600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:103418400-103421400	Weak transcription	Fetal Kidney	kidney
24	chr4:103418400-103421400	Weak transcription	Ovary	ovary
25	chr4:103418400-103421400	Weak transcription	K562	blood
26	chr4:103418600-103420400	Weak transcription	Brain Anterior Caudate	brain
27	chr4:103418600-103420400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:103418600-103421200	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:103418800-103420200	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:103418800-103421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:103419400-103419600	Enhancers	NHEK	skin
32	chr4:103419400-103420400	Weak transcription	Fetal Heart	heart
33	chr4:103419400-103421200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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