Variant report

Variant	rs73000267
Chromosome Location	chr1:103349862-103349863
allele	C/G/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	chr1:103349854-103350008	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
COL11A1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv546928	chr1:103331349-103371652	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv871829	chr1:103336601-103367095	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	nsv870600	chr1:103336601-103548497	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv871808	chr1:103339272-103367095	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv870725	chr1:103339272-103371032	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	nsv870821	chr1:103339272-103379918	Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv871809	chr1:103339272-103459537	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv871732	chr1:103339272-103466917	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv871475	chr1:103339272-103548497	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv546929	chr1:103342392-103371652	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	nsv462728	chr1:103342392-103455217	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv546930	chr1:103342392-103455217	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv871888	chr1:103349419-103379918	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv870835	chr1:103349419-103409100	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv871533	chr1:103349419-103412000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv870487	chr1:103349419-103466917	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103335400-103350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:103338400-103369400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:103338800-103357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:103340800-103350000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:103341600-103352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:103343400-103352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:103343400-103355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:103343400-103356200	Weak transcription	Fetal Heart	heart
9	chr1:103343400-103366000	Weak transcription	Fetal Brain Female	brain
10	chr1:103345600-103350600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:103345600-103385600	Weak transcription	HSMMtube	muscle
12	chr1:103345800-103357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:103346000-103350200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:103346200-103357400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:103346200-103357400	Weak transcription	NH-A	brain
16	chr1:103347000-103350800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:103348000-103352000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:103348000-103352200	Weak transcription	HMEC	breast
19	chr1:103348200-103352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:103348200-103352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:103348200-103357400	Weak transcription	HSMM	muscle
22	chr1:103348200-103357400	Weak transcription	Osteobl	bone
23	chr1:103349000-103352200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:103349400-103350400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:103349600-103350200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:103349600-103350200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:103349600-103350200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:103349600-103350200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:103349600-103350400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:103349800-103350000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:103349800-103350200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr1:103349800-103350400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:103349800-103350400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:103349800-103350400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:103349800-103350600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:103349800-103356000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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