Variant report

Variant	rs544294527
Chromosome Location	chr17:38254976-38254977
allele	C/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38136802..38138623-chr17:38254176..38256364,2	K562	blood:
2	chr17:38254925..38257007-chr17:38334127..38336173,2	MCF-7	breast:
3	chr17:38225724..38230590-chr17:38252636..38256998,6	K562	blood:
4	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
5	chr17:38242954..38244557-chr17:38253562..38255451,2	MCF-7	breast:
6	chr17:38136308..38139120-chr17:38254735..38257246,2	MCF-7	breast:
7	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
8	chr17:38137876..38139862-chr17:38253958..38255577,2	K562	blood:
9	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
10	chr17:38218447..38220778-chr17:38254476..38256846,3	K562	blood:
11	chr17:37822718..37824685-chr17:38254119..38256837,4	K562	blood:
12	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
13	chr17:38169185..38171597-chr17:38253858..38256821,3	K562	blood:
14	chr17:38209724..38212564-chr17:38253281..38256740,3	K562	blood:
15	chr17:38224768..38231268-chr17:38252636..38258126,7	K562	blood:
16	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
17	chr17:37822718..37824669-chr17:38254202..38256837,3	K562	blood:
18	chr17:38171795..38174739-chr17:38253717..38256695,2	K562	blood:
19	chr17:38182380..38184937-chr17:38252764..38255458,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000265799	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv520636	chr17:38254689-38264197	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38249000-38255200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr17:38251200-38255600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:38251800-38255200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
4	chr17:38251800-38255200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
5	chr17:38252200-38255200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr17:38252400-38255000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
7	chr17:38252600-38255200	Flanking Active TSS	GM12878-XiMat	blood
8	chr17:38252800-38255000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
9	chr17:38252800-38255200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr17:38253000-38255000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
11	chr17:38253400-38255000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:38253400-38255600	Enhancers	Primary B cells from cord blood	blood
13	chr17:38253600-38255000	Enhancers	Fetal Intestine Large	intestine
14	chr17:38253600-38255000	Enhancers	Placenta	Placenta
15	chr17:38253600-38255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:38253600-38255200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr17:38253600-38255200	Enhancers	Small Intestine	intestine
18	chr17:38253600-38255600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:38253800-38255000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:38253800-38255200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:38253800-38255200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:38253800-38255200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:38253800-38255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:38253800-38255200	Enhancers	Aorta	Aorta
25	chr17:38253800-38255200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr17:38253800-38255200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr17:38253800-38255200	Flanking Active TSS	Hela-S3	cervix
28	chr17:38253800-38255200	Transcr. at gene 5' and 3'	NHEK	skin
29	chr17:38254000-38255000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:38254000-38255000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr17:38254000-38255200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr17:38254000-38255200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:38254000-38255200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr17:38254000-38255200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr17:38254000-38255200	Flanking Active TSS	Liver	Liver
36	chr17:38254000-38255200	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr17:38254000-38255200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:38254000-38255200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr17:38254000-38255200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr17:38254000-38255200	Flanking Active TSS	HMEC	breast
41	chr17:38254000-38255200	Flanking Active TSS	HSMMtube	muscle
42	chr17:38254000-38255200	Flanking Active TSS	NHDF-Ad	bronchial
43	chr17:38254000-38255400	Flanking Active TSS	Colonic Mucosa	Colon
44	chr17:38254000-38255400	Flanking Active TSS	HepG2	liver
45	chr17:38254000-38255800	Enhancers	Primary hematopoietic stem cells	blood
46	chr17:38254200-38255000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:38254200-38255200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:38254200-38255200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr17:38254200-38255200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr17:38254200-38255200	Flanking Active TSS	Esophagus	oesophagus

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