Variant report

Variant	rs569474469
Chromosome Location	chr17:38255012-38255013
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: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
ENSG00000126351	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000188895	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	chr17:38252600-38255200	Flanking Active TSS	GM12878-XiMat	blood
7	chr17:38252800-38255200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr17:38253400-38255600	Enhancers	Primary B cells from cord blood	blood
9	chr17:38253600-38255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:38253600-38255200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr17:38253600-38255200	Enhancers	Small Intestine	intestine
12	chr17:38253600-38255600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:38253800-38255200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:38253800-38255200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:38253800-38255200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:38253800-38255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:38253800-38255200	Enhancers	Aorta	Aorta
18	chr17:38253800-38255200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr17:38253800-38255200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr17:38253800-38255200	Flanking Active TSS	Hela-S3	cervix
21	chr17:38253800-38255200	Transcr. at gene 5' and 3'	NHEK	skin
22	chr17:38254000-38255200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr17:38254000-38255200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:38254000-38255200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr17:38254000-38255200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr17:38254000-38255200	Flanking Active TSS	Liver	Liver
27	chr17:38254000-38255200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr17:38254000-38255200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:38254000-38255200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr17:38254000-38255200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr17:38254000-38255200	Flanking Active TSS	HMEC	breast
32	chr17:38254000-38255200	Flanking Active TSS	HSMMtube	muscle
33	chr17:38254000-38255200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr17:38254000-38255400	Flanking Active TSS	Colonic Mucosa	Colon
35	chr17:38254000-38255400	Flanking Active TSS	HepG2	liver
36	chr17:38254000-38255800	Enhancers	Primary hematopoietic stem cells	blood
37	chr17:38254200-38255200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:38254200-38255200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr17:38254200-38255200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr17:38254200-38255200	Flanking Active TSS	Esophagus	oesophagus
41	chr17:38254200-38255200	Flanking Active TSS	Left Ventricle	heart
42	chr17:38254200-38255200	Flanking Active TSS	Right Atrium	heart
43	chr17:38254200-38255200	Flanking Active TSS	Stomach Mucosa	stomach
44	chr17:38254200-38255200	Transcr. at gene 5' and 3'	K562	blood
45	chr17:38254200-38255200	Flanking Active TSS	NHLF	lung
46	chr17:38254200-38257400	Active TSS	Ovary	ovary
47	chr17:38254200-38257600	Flanking Active TSS	Dnd41	blood
48	chr17:38254200-38257800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr17:38254400-38255200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr17:38254400-38255200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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