Variant report

Variant	rs557520445
Chromosome Location	chr13:76111533-76111534
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65339613..65340413-chr13:76111532..76112034,2	NB4	blood:
2	chr13:76102775..76109881-chr13:76110381..76113047,9	MCF-7	breast:
3	chr13:76055919..76057695-chr13:76110507..76112437,2	MCF-7	breast:
4	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
5	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:
6	chr13:76109113..76111805-chr13:76112674..76114626,2	K562	blood:
7	chr13:76111404..76112078-chr17:26989037..26989702,2	Hela-S3	cervix:
8	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000136111	Chromatin interaction
ENSG00000261553	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000118939	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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3326553	chr13:76106251-76120849	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3346687	chr13:76106451-76115149	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3363843	chr13:76106551-76113949	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv14404	chr13:76107773-76119573	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv1833250	chr13:76109534-76117768	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv442676	chr13:76109534-76117768	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2760289	chr13:76109536-76117768	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv514711	chr13:76111087-76115423	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2421984	chr13:76111280-76119506	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv525594	chr13:76111280-76119506	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv818980	chr13:76111280-76119506	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76097000-76111600	Weak transcription	Spleen	Spleen
2	chr13:76110400-76111600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:76110400-76112800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr13:76110600-76111600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr13:76110600-76111800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr13:76110600-76111800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:76110600-76111800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:76110600-76112600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr13:76110800-76111600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr13:76110800-76111600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:76110800-76111800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr13:76110800-76111800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr13:76110800-76112400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr13:76110800-76112400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:76110800-76112600	Active TSS	H1 Cell Line	embryonic stem cell
16	chr13:76110800-76112600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr13:76110800-76112600	Active TSS	Psoas Muscle	Psoas
18	chr13:76110800-76112600	Active TSS	NHDF-Ad	bronchial
19	chr13:76110800-76112800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:76110800-76112800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:76110800-76112800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr13:76110800-76112800	Active TSS	GM12878-XiMat	blood
23	chr13:76111000-76111600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr13:76111000-76111600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr13:76111000-76111600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr13:76111000-76111600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:76111000-76111600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr13:76111000-76111600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr13:76111000-76111600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr13:76111000-76111600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr13:76111000-76111600	Flanking Active TSS	Liver	Liver
32	chr13:76111000-76111600	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr13:76111000-76111600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr13:76111000-76111600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr13:76111000-76111600	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr13:76111000-76111600	Flanking Active TSS	HUVEC	blood vessel
37	chr13:76111000-76111600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr13:76111000-76111800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr13:76111000-76111800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr13:76111000-76111800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr13:76111000-76112000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:76111000-76112200	Active TSS	Colonic Mucosa	Colon
43	chr13:76111000-76112400	Active TSS	Fetal Muscle Trunk	muscle
44	chr13:76111000-76112400	Active TSS	A549	lung
45	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:76111000-76112600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:76111000-76112600	Active TSS	Right Ventricle	heart
48	chr13:76111000-76112800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:76111000-76112800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:76111000-76112800	Active TSS	HUES6 Cell Line	embryonic stem cell

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