Variant report

Variant	rs369216706
Chromosome Location	chr1:10554814-10554815
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: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	chr1:10269919..10270914-chr1:10554482..10555369,2	K562	blood:
2	chr1:10488833..10492668-chr1:10552829..10556296,4	MCF-7	breast:
3	chr1:10437389..10440210-chr1:10554525..10556492,2	K562	blood:
4	chr1:10490211..10490965-chr1:10554619..10555366,4	MCF-7	breast:
5	chr1:10543950..10546722-chr1:10553163..10555710,2	K562	blood:
6	chr1:10530530..10533287-chr1:10554066..10555649,2	K562	blood:
7	chr1:10552588..10555183-chr1:10557797..10560030,2	MCF-7	breast:
8	chr1:10437477..10438175-chr1:10554437..10555190,2	MCF-7	breast:
9	chr1:10536268..10539627-chr1:10553457..10556201,3	K562	blood:
10	chr1:10490031..10491039-chr1:10554309..10555652,10	MCF-7	breast:
11	chr1:10488979..10489550-chr1:10554259..10555160,2	K562	blood:
12	chr1:10554744..10555346-chr1:10567221..10567895,2	MCF-7	breast:
13	chr1:10488234..10492176-chr1:10552870..10556900,4	K562	blood:
14	chr1:10554713..10555456-chr1:10567516..10568024,2	MCF-7	breast:
15	chr1:10489902..10490981-chr1:10554372..10555362,18	K562	blood:
16	chr1:10554756..10555464-chr1:10926875..10927459,2	K562	blood:
17	chr1:10488879..10492501-chr1:10553959..10556720,6	MCF-7	breast:
18	chr1:10533760..10535685-chr1:10553523..10556156,3	MCF-7	breast:
19	chr1:10437203..10438150-chr1:10554425..10555351,3	K562	blood:
20	chr1:10534413..10537768-chr1:10551238..10554957,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271989	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000054523	Chromatin interaction
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv3399371	chr1:10554487-10554826	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
2	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
3	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
4	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:10536200-10555000	Weak transcription	NH-A	brain
6	chr1:10536400-10555000	Weak transcription	Fetal Kidney	kidney
7	chr1:10536400-10555000	Weak transcription	HSMM	muscle
8	chr1:10536600-10555000	Weak transcription	Brain Substantia Nigra	brain
9	chr1:10540600-10555600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:10550000-10555000	Weak transcription	A549	lung
11	chr1:10550200-10555000	Weak transcription	Small Intestine	intestine
12	chr1:10550400-10555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:10550400-10555000	Weak transcription	Gastric	stomach
14	chr1:10550400-10556000	Weak transcription	Lung	lung
15	chr1:10550600-10555000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:10550600-10555000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:10550600-10555000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:10550600-10555000	Weak transcription	Right Ventricle	heart
19	chr1:10550800-10555000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:10551600-10555000	Weak transcription	Fetal Stomach	stomach
21	chr1:10553000-10555000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:10553000-10567200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:10553600-10555800	Enhancers	Liver	Liver
24	chr1:10554000-10557000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:10554200-10555000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:10554200-10555200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:10554200-10555600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:10554400-10555000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:10554400-10555000	Enhancers	Fetal Intestine Large	intestine
30	chr1:10554400-10555000	Enhancers	Right Atrium	heart
31	chr1:10554600-10555000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:10554600-10555000	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:10554600-10555000	Enhancers	Brain Germinal Matrix	brain
34	chr1:10554600-10555000	Enhancers	Pancreas	Pancrea
35	chr1:10554600-10555000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:10554600-10555000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:10554600-10555000	Enhancers	Stomach Mucosa	stomach
38	chr1:10554600-10555000	Enhancers	Hela-S3	cervix
39	chr1:10554600-10555000	Enhancers	HepG2	liver
40	chr1:10554600-10555000	Enhancers	NHEK	skin
41	chr1:10554600-10555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:10554600-10555200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:10554600-10555200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:10554600-10555200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:10554600-10555200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:10554600-10555200	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:10554600-10555200	Enhancers	Psoas Muscle	Psoas
48	chr1:10554600-10555200	Enhancers	HMEC	breast
49	chr1:10554600-10555400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:10554600-10555600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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