Variant report

Variant	rs539231710
Chromosome Location	chr17:38108121-38108122
allele	G/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37978424..37980112-chr17:38107868..38109558,2	K562	blood:
2	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
3	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
4	chr17:38102879..38104734-chr17:38106799..38109127,2	MCF-7	breast:
5	chr17:38107864..38109571-chr17:38137036..38138618,2	MCF-7	breast:
6	chr17:38091500..38094423-chr17:38107517..38109034,2	MCF-7	breast:
7	chr17:38079284..38081708-chr17:38107683..38109275,2	MCF-7	breast:
8	chr17:38082186..38086567-chr17:38107763..38110832,6	K562	blood:
9	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
10	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:
11	chr17:38097357..38100615-chr17:38107229..38110087,5	K562	blood:
12	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
13	chr17:38082601..38085339-chr17:38107879..38109914,2	MCF-7	breast:
14	chr17:38082186..38083715-chr17:38108086..38110832,2	K562	blood:
15	chr17:38107027..38109287-chr17:38138129..38139921,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108344	Chromatin interaction
ENSG00000264968	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000204913	Chromatin interaction
ENSG00000188895	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking 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	28 gene(s)	inside rSNPs	diseases
2	esv3442992	chr17:38107951-38110799	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38096400-38108400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:38100800-38108400	Weak transcription	Esophagus	oesophagus
3	chr17:38103200-38108400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:38103600-38108200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:38103600-38108600	Weak transcription	HMEC	breast
6	chr17:38104400-38108400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:38105200-38108400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:38105200-38108400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:38105200-38108400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:38105200-38108600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:38105400-38108200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:38105400-38108200	Weak transcription	Stomach Mucosa	stomach
13	chr17:38105400-38108400	Weak transcription	Primary T cells from cord blood	blood
14	chr17:38105400-38108400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:38105400-38108400	Weak transcription	Fetal Lung	lung
16	chr17:38105400-38108600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:38105400-38108600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:38105400-38108600	Weak transcription	Thymus	Thymus
19	chr17:38105400-38108600	Weak transcription	A549	lung
20	chr17:38105600-38108200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr17:38105600-38108400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:38105600-38108400	Weak transcription	Fetal Intestine Large	intestine
23	chr17:38105600-38108400	Weak transcription	Fetal Intestine Small	intestine
24	chr17:38105800-38108200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr17:38105800-38108600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:38106200-38108600	Enhancers	Liver	Liver
27	chr17:38106400-38108600	Enhancers	Fetal Muscle Leg	muscle
28	chr17:38106600-38108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr17:38106600-38108600	Enhancers	Fetal Muscle Trunk	muscle
30	chr17:38107000-38108400	Weak transcription	Left Ventricle	heart
31	chr17:38107000-38108400	Weak transcription	Right Atrium	heart
32	chr17:38107000-38108400	Weak transcription	Right Ventricle	heart
33	chr17:38107000-38108400	Weak transcription	Spleen	Spleen
34	chr17:38107000-38108600	Enhancers	Primary B cells from cord blood	blood
35	chr17:38107200-38108200	Weak transcription	K562	blood
36	chr17:38107200-38108400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:38107200-38108400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:38107400-38108200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:38107400-38108200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:38107400-38108400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:38107400-38108400	Weak transcription	Adipose Nuclei	Adipose
42	chr17:38107400-38108400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:38107400-38108600	Enhancers	Placenta	Placenta
44	chr17:38107600-38108200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:38107600-38108200	Enhancers	HepG2	liver
46	chr17:38107600-38108600	Weak transcription	HSMM	muscle
47	chr17:38107800-38108200	Weak transcription	Pancreas	Pancrea
48	chr17:38108000-38108400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:38108000-38108600	Enhancers	Brain Hippocampus Middle	brain
50	chr17:38108000-38108600	Enhancers	Fetal Thymus	thymus

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