Variant report

Variant	rs2993568
Chromosome Location	chr13:96056540-96056541
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:8)
LncRNA
region (count:2)
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	chr13:95841327..95842256-chr13:96056178..96057119,5	MCF-7	breast:
2	chr13:95843500..95844639-chr13:96055881..96056848,6	K562	blood:
3	chr13:95272285..95273035-chr13:96056279..96056904,2	K562	blood:
4	chr13:96056383..96057194-chr13:96130599..96131185,2	MCF-7	breast:
5	chr13:95843758..95844705-chr13:96056220..96057135,5	MCF-7	breast:
6	chr13:95843651..95844564-chr13:96056296..96057006,3	MCF-7	breast:
7	chr13:95841275..95842299-chr13:96056212..96057228,12	K562	blood:
8	chr13:95948894..95949810-chr13:96056285..96057228,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLDN10-1	chr13:96056526-96056798	XLOC_010474
2	lnc-CLDN10-1	chr13:96056331-96056798	NONHSAT034760

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1538334	0.88[ASN][1000 genomes]
rs1538335	0.88[ASN][1000 genomes]
rs1538337	0.89[ASN][1000 genomes]
rs2992897	0.82[ASN][1000 genomes]
rs2993570	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2993571	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7319564	0.84[ASN][1000 genomes]
rs7989003	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96055600-96056800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:96055600-96056800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr13:96055600-96056800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr13:96055800-96056600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr13:96055800-96056600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
6	chr13:96055800-96056600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:96055800-96056600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:96055800-96056600	Flanking Active TSS	GM12878-XiMat	blood
9	chr13:96055800-96056800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr13:96055800-96056800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:96055800-96056800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:96055800-96056800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:96055800-96056800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:96055800-96056800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:96055800-96056800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:96055800-96056800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:96056000-96056600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:96056000-96056600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:96056000-96056600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr13:96056000-96056600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
21	chr13:96056000-96056600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr13:96056000-96056600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:96056000-96056600	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr13:96056000-96056600	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr13:96056000-96056600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr13:96056000-96056600	Enhancers	Spleen	Spleen
27	chr13:96056000-96056800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:96056000-96056800	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr13:96056000-96056800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr13:96056000-96056800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr13:96056000-96056800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:96056000-96056800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:96056000-96056800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr13:96056000-96056800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:96056000-96056800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:96056000-96056800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:96056000-96056800	Active TSS	Brain Substantia Nigra	brain
38	chr13:96056000-96056800	Active TSS	Esophagus	oesophagus
39	chr13:96056000-96056800	Active TSS	Fetal Kidney	kidney
40	chr13:96056000-96056800	Flanking Active TSS	Fetal Lung	lung
41	chr13:96056000-96056800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr13:96056000-96056800	Active TSS	Rectal Smooth Muscle	rectum
43	chr13:96056000-96056800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr13:96056000-96056800	Active TSS	Thymus	Thymus
45	chr13:96056000-96056800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr13:96056000-96056800	Active TSS	NHDF-Ad	bronchial
47	chr13:96056000-96057000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:96056200-96056600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr13:96056200-96056600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:96056200-96056600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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