Variant report

Variant	rs71659376
Chromosome Location	chr1:113351897-113351898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113258859..113259494-chr1:113351565..113352185,2	MCF-7	breast:
2	chr1:113351744..113352435-chr1:113615333..113616324,3	K562	blood:
3	chr1:113351562..113352325-chr1:113615161..113616117,3	MCF-7	breast:
4	chr1:113256402..113259663-chr1:113350471..113353019,3	K562	blood:
5	chr1:113351443..113352326-chr1:113584981..113585924,5	MCF-7	breast:
6	chr1:113258681..113259438-chr1:113351567..113352234,2	MCF-7	breast:
7	chr1:113351564..113352512-chr1:113584963..113585860,4	MCF-7	breast:
8	chr1:113351576..113352442-chr1:113423249..113424028,4	MCF-7	breast:
9	chr1:113262194..113266688-chr1:113347880..113352224,5	MCF-7	breast:
10	chr1:113351549..113352456-chr1:113584930..113585890,3	K562	blood:
11	chr1:113350162..113352262-chr1:113614646..113616271,2	MCF-7	breast:
12	chr1:113256920..113257653-chr1:113351799..113352468,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238198	Chromatin interaction
ENSG00000184599	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000155367	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	nsv999123	chr1:113297485-113352172	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv547567	chr1:113313563-113384015	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1000352	chr1:113350929-113405903	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv1011519	chr1:113351374-113402040	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113342000-113361800	Weak transcription	Right Atrium	heart
2	chr1:113347000-113352200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:113348200-113352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:113348600-113352400	Enhancers	Placenta	Placenta
5	chr1:113349000-113352000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:113349000-113352000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:113350200-113352000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:113350200-113352200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:113350200-113352200	Enhancers	HSMMtube	muscle
10	chr1:113350400-113355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:113350600-113352000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:113350800-113352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:113351200-113352400	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:113351400-113352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:113351400-113352400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr1:113351400-113352600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:113351600-113352000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:113351600-113352200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:113351600-113352200	Enhancers	Stomach Mucosa	stomach
20	chr1:113351600-113352400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:113351600-113352400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:113351600-113352400	Enhancers	HMEC	breast
23	chr1:113351600-113352400	Enhancers	NHEK	skin
24	chr1:113351600-113353200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:113351800-113352000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:113351800-113352000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:113351800-113352000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:113351800-113352200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:113351800-113352200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:113351800-113352200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:113351800-113352200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:113351800-113352200	Enhancers	Brain Anterior Caudate	brain
33	chr1:113351800-113352200	Enhancers	Brain Hippocampus Middle	brain
34	chr1:113351800-113352200	Enhancers	HSMM	muscle
35	chr1:113351800-113352400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:113351800-113352400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:113351800-113352400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:113351800-113352400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:113351800-113352400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:113351800-113352400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:113351800-113352400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:113351800-113352400	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:113351800-113352400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:113351800-113352600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:113351800-113352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:113351800-113353000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:113351800-113353000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:113351800-113354400	Enhancers	H1 Cell Line	embryonic stem cell

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