Variant report

Variant	rs17700516
Chromosome Location	chr6:13318845-13318846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13294998..13297034-chr6:13317324..13318921,2	K562	blood:
2	chr6:13315003..13316712-chr6:13317056..13320082,3	K562	blood:

Variant related genes	Relation type
ENSG00000215022	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3734876	1.00[CHB][hapmap]
rs533533	1.00[EUR][1000 genomes]
rs535202	1.00[EUR][1000 genomes]
rs6929948	0.91[ASN][1000 genomes]
rs6929987	0.85[ASN][1000 genomes]
rs73723267	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
3	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:13291800-13320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:13292000-13326000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:13292600-13326600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:13298200-13326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:13299600-13326600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:13299800-13326400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:13300200-13327000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:13301200-13325400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:13303800-13327800	Weak transcription	Stomach Mucosa	stomach
13	chr6:13304400-13327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:13304600-13325600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:13304600-13326200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:13305200-13325800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:13305400-13326200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr6:13305800-13319000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:13305800-13326200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:13307200-13326200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr6:13307400-13326400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:13308600-13326400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:13308600-13326400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:13309000-13320200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:13309000-13325800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:13309200-13319200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:13309400-13326400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:13310200-13325600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr6:13310200-13326400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:13310600-13319200	Weak transcription	A549	lung
31	chr6:13311200-13325800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr6:13311200-13325800	Strong transcription	Adipose Nuclei	Adipose
33	chr6:13311200-13326000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:13311200-13326200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:13311400-13325800	Strong transcription	Left Ventricle	heart
36	chr6:13311400-13326000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:13311400-13326200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:13311400-13326200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:13311400-13326200	Strong transcription	Fetal Thymus	thymus
40	chr6:13311400-13326400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:13311400-13326400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:13311400-13327000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:13311600-13325800	Strong transcription	Fetal Muscle Leg	muscle
44	chr6:13311600-13326000	Strong transcription	Dnd41	blood
45	chr6:13311600-13326200	Strong transcription	Liver	Liver
46	chr6:13312200-13326400	Strong transcription	Primary B cells from cord blood	blood
47	chr6:13312600-13319400	Weak transcription	Fetal Brain Male	brain
48	chr6:13313400-13325000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:13313400-13325200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:13313400-13325400	Strong transcription	Rectal Mucosa Donor 31	rectum

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