Variant report

Variant	rs17830810
Chromosome Location	chr6:56413873-56413874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56406850..56409641-chr6:56410586..56415474,8	K562	blood:
2	chr6:56406220..56410337-chr6:56413126..56418049,5	MCF-7	breast:
3	chr6:56413498..56416394-chr6:56417084..56419483,2	K562	blood:
4	chr6:56410167..56412439-chr6:56412999..56414699,2	K562	blood:
5	chr6:56234525..56235479-chr6:56413389..56414430,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12662511	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16887983	0.90[CHB][hapmap];0.95[ASN][1000 genomes]
rs17757606	0.87[ASN][1000 genomes]
rs17757660	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17830661	0.87[ASN][1000 genomes]
rs17830685	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17830715	0.90[ASN][1000 genomes]
rs17830726	0.90[ASN][1000 genomes]
rs3800026	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4256439	0.90[ASN][1000 genomes]
rs4288197	0.92[ASN][1000 genomes]
rs7769014	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
4	nsv1016868	chr6:56376165-56417631	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56408200-56414600	Weak transcription	Aorta	Aorta
2	chr6:56408200-56415200	Weak transcription	Right Atrium	heart
3	chr6:56408200-56415400	Weak transcription	Ovary	ovary
4	chr6:56408200-56416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:56408200-56416600	Weak transcription	Left Ventricle	heart
6	chr6:56408200-56416800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:56408200-56416800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:56408200-56417000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:56408200-56417000	Weak transcription	Fetal Brain Female	brain
10	chr6:56408200-56417200	Weak transcription	Fetal Brain Male	brain
11	chr6:56408200-56417400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:56408200-56419400	Weak transcription	Placenta	Placenta
13	chr6:56408200-56419800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:56408200-56440400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:56408200-56440600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:56408200-56496000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:56408400-56414200	Weak transcription	GM12878-XiMat	blood
18	chr6:56408400-56414800	Weak transcription	Adipose Nuclei	Adipose
19	chr6:56408400-56415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:56408400-56416200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:56408400-56416200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:56408400-56416200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:56408400-56416400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:56408400-56416600	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:56408400-56416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:56408400-56416800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:56408400-56416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:56408400-56416800	Weak transcription	Fetal Stomach	stomach
29	chr6:56408400-56417400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:56408400-56417400	Weak transcription	HMEC	breast
31	chr6:56408400-56430800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:56408600-56415200	Weak transcription	HSMMtube	muscle
33	chr6:56408600-56417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:56408600-56417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:56409000-56414400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:56409000-56415200	Weak transcription	NHEK	skin
37	chr6:56409000-56416000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:56409000-56416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:56409000-56416800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:56409400-56414200	Weak transcription	NHDF-Ad	bronchial
41	chr6:56409400-56414400	Weak transcription	Fetal Heart	heart
42	chr6:56409400-56416000	Weak transcription	HepG2	liver
43	chr6:56409400-56416000	Weak transcription	NH-A	brain
44	chr6:56409400-56416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:56409600-56414400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:56409600-56415400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:56409600-56416200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:56410000-56415400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:56410200-56417000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:56410400-56414400	Strong transcription	HSMM	muscle

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