Variant report

Variant	rs540467845
Chromosome Location	chr1:247171156-247171157
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247169768..247172852-chr1:247266315..247269719,3	K562	blood:
2	chr1:247170899..247171471-chr5:36606529..36607214,2	Hela-S3	cervix:
3	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
4	chr1:247170921..247172935-chr1:247241527..247243070,2	MCF-7	breast:
5	chr1:247169673..247172319-chr1:247241987..247243991,2	K562	blood:
6	chr1:247164050..247166369-chr1:247167693..247171213,3	K562	blood:
7	chr1:247170817..247171398-chr3:194980386..194981232,2	Hela-S3	cervix:
8	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:
9	chr1:247170765..247171326-chr15:59664652..59665258,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000153207	Chromatin interaction
ENSG00000157483	Chromatin interaction
ENSG00000079215	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000173950	Chromatin interaction
ENSG00000157470	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247169800-247171800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:247169800-247171800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:247169800-247171800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:247169800-247172000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:247169800-247172000	Active TSS	Hela-S3	cervix
6	chr1:247170000-247171400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:247170000-247171400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:247170000-247171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:247170000-247171400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:247170000-247171400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:247170000-247171400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:247170000-247171400	ZNF genes & repeats	Liver	Liver
13	chr1:247170000-247171600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:247170000-247171600	Active TSS	NH-A	brain
15	chr1:247170000-247171800	Active TSS	Brain Germinal Matrix	brain
16	chr1:247170000-247171800	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:247170000-247171800	Active TSS	HSMM	muscle
18	chr1:247170000-247171800	Active TSS	NHDF-Ad	bronchial
19	chr1:247170000-247172000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:247170200-247171200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:247170200-247171400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:247170200-247171400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:247170200-247171400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:247170200-247171600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:247170200-247171800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:247170200-247171800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:247170200-247171800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr1:247170200-247171800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:247170200-247171800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:247170200-247171800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr1:247170200-247171800	Active TSS	HSMMtube	muscle
32	chr1:247170200-247171800	Active TSS	Osteobl	bone
33	chr1:247170400-247171200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:247170400-247171400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:247170400-247171400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:247170400-247171400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr1:247170400-247171600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:247170400-247171600	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr1:247170400-247171600	Active TSS	Right Atrium	heart
40	chr1:247170400-247171600	Active TSS	HUVEC	blood vessel
41	chr1:247170400-247171600	Active TSS	K562	blood
42	chr1:247170400-247171800	Active TSS	H1 Cell Line	embryonic stem cell
43	chr1:247170400-247171800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:247170400-247171800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:247170400-247171800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:247170400-247171800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr1:247170400-247171800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:247170400-247171800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:247170400-247171800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:247170400-247171800	Active TSS	Fetal Muscle Leg	muscle

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