Variant report

Variant	rs543098727
Chromosome Location	chr1:169317777-169317778
allele	C/T
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	chr1:168572446..168573392-chr1:169317346..169318310,9	MCF-7	breast:
2	chr1:168606588..168607302-chr1:169317375..169317960,4	K562	blood:
3	chr1:168605132..168606019-chr1:169317390..169318347,3	MCF-7	breast:
4	chr1:169317063..169319375-chr1:169454243..169457078,2	K562	blood:
5	chr1:168572459..168573424-chr1:169317442..169318283,3	MCF-7	breast:
6	chr1:168604062..168606034-chr1:169316647..169318325,2	MCF-7	breast:
7	chr1:168572454..168573380-chr1:169317397..169317940,2	K562	blood:
8	chr1:168606300..168607332-chr1:169317339..169318501,5	MCF-7	breast:
9	chr1:168605217..168605845-chr1:169317745..169318328,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117479	Chromatin interaction
ENSG00000213062	Chromatin interaction

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	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv33347	chr1:169317776-169318047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
2	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:169296600-169324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
5	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:169309400-169336400	Weak transcription	Ovary	ovary
7	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:169314800-169318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:169316000-169334200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:169316400-169321800	Weak transcription	HUVEC	blood vessel
12	chr1:169316600-169318000	Enhancers	Fetal Brain Male	brain
13	chr1:169316600-169318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:169317000-169318000	Enhancers	Colon Smooth Muscle	Colon
15	chr1:169317000-169318000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:169317000-169318200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:169317000-169318200	Enhancers	A549	lung
18	chr1:169317000-169336400	Weak transcription	Pancreas	Pancrea
19	chr1:169317200-169333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:169317400-169317800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169317400-169317800	Enhancers	Fetal Heart	heart
22	chr1:169317400-169318200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:169317600-169317800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:169317600-169317800	Enhancers	Fetal Lung	lung
25	chr1:169317600-169318000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:169317600-169318000	Enhancers	Liver	Liver

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