Variant report

Variant	rs531188827
Chromosome Location	chr1:247170462-247170463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247169768..247172852-chr1:247266315..247269719,3	K562	blood:
2	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
3	chr1:247169673..247172319-chr1:247241987..247243991,2	K562	blood:
4	chr1:247162509..247164222-chr1:247168923..247171107,2	MCF-7	breast:
5	chr1:247164050..247166369-chr1:247167693..247171213,3	K562	blood:
6	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:

Variant related genes	Relation type
ENSG00000188295	Chromatin interaction
ENSG00000153207	Chromatin interaction
ENSG00000135747	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	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv999879	chr1:247112207-247276918	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv873427	chr1:247140425-247218227	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv549546	chr1:247145690-247205056	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv945436	chr1:247162782-247171728	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv3368851	chr1:247170017-247195360	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247151200-247170800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:247169800-247170600	Flanking Active TSS	Dnd41	blood
3	chr1:247169800-247171800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:247169800-247171800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:247169800-247171800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:247169800-247172000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:247169800-247172000	Active TSS	Hela-S3	cervix
8	chr1:247170000-247171000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr1:247170000-247171400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:247170000-247171400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:247170000-247171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:247170000-247171400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:247170000-247171400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:247170000-247171400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:247170000-247171400	ZNF genes & repeats	Liver	Liver
16	chr1:247170000-247171600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:247170000-247171600	Active TSS	NH-A	brain
18	chr1:247170000-247171800	Active TSS	Brain Germinal Matrix	brain
19	chr1:247170000-247171800	Active TSS	Duodenum Mucosa	Duodenum
20	chr1:247170000-247171800	Active TSS	HSMM	muscle
21	chr1:247170000-247171800	Active TSS	NHDF-Ad	bronchial
22	chr1:247170000-247172000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:247170200-247170600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr1:247170200-247170600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:247170200-247170600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
26	chr1:247170200-247170600	Flanking Active TSS	NHEK	skin
27	chr1:247170200-247170800	Enhancers	Fetal Brain Male	brain
28	chr1:247170200-247170800	Active TSS	Psoas Muscle	Psoas
29	chr1:247170200-247171000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:247170200-247171000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
31	chr1:247170200-247171200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:247170200-247171400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:247170200-247171400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:247170200-247171400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:247170200-247171600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:247170200-247171800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:247170200-247171800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:247170200-247171800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:247170200-247171800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:247170200-247171800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:247170200-247171800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr1:247170200-247171800	Active TSS	HSMMtube	muscle
43	chr1:247170200-247171800	Active TSS	Osteobl	bone
44	chr1:247170400-247170600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr1:247170400-247170600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr1:247170400-247170600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:247170400-247170600	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:247170400-247170600	Enhancers	Fetal Intestine Small	intestine
49	chr1:247170400-247170600	Enhancers	Fetal Lung	lung
50	chr1:247170400-247170600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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