Variant report

Variant	rs548314064
Chromosome Location	chr1:247293343-247293344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
7	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1012616	chr1:247173851-247365588	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv535420	chr1:247173851-247365588	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
11	nsv999352	chr1:247180668-247307074	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv535421	chr1:247180668-247307074	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv997687	chr1:247180668-247348847	Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv535422	chr1:247180668-247348847	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv427974	chr1:247184802-247352964	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv3336179	chr1:247195262-247373269	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv873428	chr1:247226986-247346189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv873431	chr1:247242836-247297502	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
20	esv1830156	chr1:247278707-247319489	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
21	nsv873432	chr1:247278707-247334323	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
22	nsv873433	chr1:247278707-247360368	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
23	nsv549567	chr1:247279802-247306833	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
24	nsv1005008	chr1:247285853-247339833	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
25	nsv535423	chr1:247285853-247339833	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
26	esv3421733	chr1:247290229-247295227	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
27	esv3396272	chr1:247291029-247294327	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
28	esv3508554	chr1:247291029-247294327	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
29	esv3365672	chr1:247291329-247294327	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
30	esv3393228	chr1:247291329-247294327	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
31	esv3503402	chr1:247291479-247294027	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv821373	chr1:247291971-247293485	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
33	esv3508556	chr1:247292066-247293454	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
34	esv3508558	chr1:247292084-247293378	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
35	esv3508557	chr1:247292097-247293558	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
36	esv3508555	chr1:247292125-247293378	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
37	esv12039	chr1:247292150-247293370	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
38	esv1807956	chr1:247292244-247305873	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
39	esv1814795	chr1:247292244-247305873	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
40	esv1806065	chr1:247292296-247305873	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
41	esv3503401	chr1:247292418-247293382	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
42	esv3503403	chr1:247292418-247293382	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247288800-247294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:247289200-247294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:247289400-247293600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:247291200-247293600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:247291200-247294400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:247291200-247294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:247291400-247293400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:247291400-247293400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:247291400-247293400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:247291400-247293400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:247291400-247293600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:247291400-247293600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:247291400-247293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:247291400-247293600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:247291400-247293600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:247291400-247293600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:247291400-247293600	Weak transcription	Fetal Kidney	kidney
18	chr1:247291400-247294000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:247291400-247294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:247291400-247294200	Weak transcription	Fetal Stomach	stomach
21	chr1:247291400-247294400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:247291400-247294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:247291400-247294400	Weak transcription	Primary B cells from cord blood	blood
24	chr1:247291400-247294400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:247291400-247294400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:247291400-247294600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:247291400-247294800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:247291400-247294800	Weak transcription	Fetal Lung	lung
29	chr1:247291400-247294800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:247291400-247295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:247291400-247295200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:247291400-247297800	Weak transcription	Psoas Muscle	Psoas
33	chr1:247291600-247293400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:247291600-247293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:247291600-247293400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:247291600-247293400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:247291600-247293400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:247291600-247293400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:247291600-247293400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:247291600-247293400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:247291600-247293400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:247291600-247293400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:247291600-247293600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:247291600-247293600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:247291600-247293600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:247291600-247293600	Weak transcription	Fetal Thymus	thymus
47	chr1:247291600-247293800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:247291600-247293800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:247291600-247294000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:247291600-247294000	Weak transcription	Fetal Intestine Large	intestine

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