Variant report

Variant	rs386698772
Chromosome Location	chr6:30463200-30463201
allele	lengthTooLong
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30461226..30464873-chr6:30481916..30485904,6	K562	blood:
2	chr6:30461133..30465546-chr6:30581311..30587610,6	K562	blood:
3	chr6:30461259..30465392-chr6:30522787..30524825,5	MCF-7	breast:
4	chr6:30461588..30464559-chr6:30482611..30484562,5	K562	blood:
5	chr6:30460308..30463504-chr6:30467880..30470145,3	K562	blood:
6	chr6:30459180..30463504-chr6:30468325..30471829,5	K562	blood:
7	chr6:30461955..30465538-chr6:30528030..30531365,3	K562	blood:
8	chr6:30461684..30464016-chr6:30583685..30585853,3	MCF-7	breast:
9	chr6:30452366..30463564-chr6:30577885..30586736,19	MCF-7	breast:
10	chr6:30462600..30464540-chr6:30524018..30525646,3	K562	blood:
11	chr6:30461707..30464004-chr6:30498859..30501819,2	MCF-7	breast:
12	chr6:30462155..30464908-chr6:30512487..30514288,2	MCF-7	breast:
13	chr6:30462680..30464741-chr6:30508231..30510118,2	MCF-7	breast:
14	chr6:30461233..30466153-chr6:30523018..30526290,6	K562	blood:
15	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
16	chr6:30460032..30464090-chr6:30482705..30485397,3	MCF-7	breast:
17	chr6:30462887..30464887-chr6:30510637..30512164,2	MCF-7	breast:
18	chr6:30462726..30464403-chr6:30470965..30472955,2	MCF-7	breast:
19	chr6:30462095..30464015-chr6:30511746..30514126,2	K562	blood:
20	chr6:30461885..30464563-chr6:30510233..30512351,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204590	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204569	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
9	nsv884081	chr6:30455920-30472772	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
10	nsv884082	chr6:30455920-30475431	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
11	esv2421394	chr6:30462084-30463208	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv884083	chr6:30462084-30470669	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv884084	chr6:30462084-30475431	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv884085	chr6:30462084-30482080	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30458600-30464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:30458600-30465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:30458600-30467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:30459600-30464200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:30459800-30464000	Weak transcription	Hela-S3	cervix
6	chr6:30460200-30464400	Weak transcription	NH-A	brain
7	chr6:30460200-30468800	Weak transcription	HSMMtube	muscle
8	chr6:30460600-30463200	Weak transcription	Aorta	Aorta
9	chr6:30460600-30464000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:30460600-30464000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:30460600-30464200	Weak transcription	Stomach Mucosa	stomach
12	chr6:30460600-30466400	Weak transcription	Brain Anterior Caudate	brain
13	chr6:30460800-30463200	Weak transcription	Pancreas	Pancrea
14	chr6:30460800-30463800	Weak transcription	HMEC	breast
15	chr6:30460800-30464200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:30460800-30464200	Weak transcription	Fetal Lung	lung
17	chr6:30460800-30464200	Weak transcription	HepG2	liver
18	chr6:30460800-30464400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:30460800-30464600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:30460800-30465600	Weak transcription	Right Atrium	heart
21	chr6:30460800-30468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:30460800-30468400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:30460800-30475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:30461000-30464000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:30461400-30463800	Weak transcription	Brain Substantia Nigra	brain
26	chr6:30461400-30463800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:30461400-30468000	Weak transcription	Dnd41	blood
28	chr6:30461400-30468200	Weak transcription	Small Intestine	intestine
29	chr6:30461400-30468400	Weak transcription	Placenta	Placenta
30	chr6:30461600-30464000	Weak transcription	Osteobl	bone
31	chr6:30461600-30468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:30461800-30463400	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:30461800-30463400	Weak transcription	Ovary	ovary
34	chr6:30461800-30464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:30461800-30464200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:30461800-30464200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:30461800-30464200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:30461800-30468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:30462000-30463800	Weak transcription	NHEK	skin
40	chr6:30462000-30464000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:30462000-30464200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:30462200-30463400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:30462200-30463800	Weak transcription	Liver	Liver
44	chr6:30462200-30464000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:30462200-30464000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:30462200-30464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:30462200-30464000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:30462200-30464000	Enhancers	K562	blood
49	chr6:30462200-30464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:30462200-30464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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