Variant report

Variant	rs530233713
Chromosome Location	chr1:171190075-171190076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3493183	chr1:171189993-171190434	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv3493182	chr1:171190017-171190332	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171186800-171190200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:171186800-171190200	Enhancers	Placenta	Placenta
3	chr1:171187200-171190400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:171187600-171190400	Enhancers	Stomach Mucosa	stomach
5	chr1:171187800-171191400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:171188000-171192200	Weak transcription	Pancreas	Pancrea
7	chr1:171188800-171190200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:171189000-171190400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:171189000-171190400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:171189000-171191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:171189000-171191600	Weak transcription	Small Intestine	intestine
12	chr1:171189200-171190200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:171189200-171190200	Enhancers	Fetal Heart	heart
14	chr1:171189200-171190400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:171189200-171190400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:171189200-171190400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:171189200-171190600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:171189200-171192600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:171189400-171190200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:171189400-171190200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:171189400-171190200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr1:171189400-171190200	Flanking Active TSS	NHLF	lung
23	chr1:171189600-171190200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:171189600-171190200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:171189600-171190200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:171189600-171190200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:171189600-171190200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:171189600-171190200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:171189600-171190200	Active TSS	Fetal Brain Female	brain
30	chr1:171189600-171190200	Active TSS	Fetal Intestine Large	intestine
31	chr1:171189600-171190200	Flanking Active TSS	Fetal Lung	lung
32	chr1:171189600-171190600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr1:171189600-171191000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:171189600-171191200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:171189800-171190200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:171189800-171190200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:171189800-171190200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:171189800-171190200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:171189800-171190200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:171189800-171190200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:171189800-171190200	Active TSS	Brain Anterior Caudate	brain
42	chr1:171189800-171190200	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:171189800-171190200	Active TSS	Brain Germinal Matrix	brain
44	chr1:171189800-171190200	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr1:171189800-171190200	Active TSS	Fetal Stomach	stomach
46	chr1:171189800-171190200	Enhancers	Psoas Muscle	Psoas
47	chr1:171189800-171190200	Active TSS	Rectal Smooth Muscle	rectum
48	chr1:171189800-171190200	Active TSS	Right Atrium	heart
49	chr1:171189800-171190200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:171189800-171190200	Enhancers	Stomach Smooth Muscle	stomach

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