Variant report

Variant	rs557630612
Chromosome Location	chr17:38255537-38255538
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38255224..38257824-chr17:38294998..38297075,3	MCF-7	breast:
2	chr17:38136802..38138623-chr17:38254176..38256364,2	K562	blood:
3	chr17:38254925..38257007-chr17:38334127..38336173,2	MCF-7	breast:
4	chr17:38255066..38255786-chr17:38267712..38268592,2	K562	blood:
5	chr17:38225724..38230590-chr17:38252636..38256998,6	K562	blood:
6	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
7	chr17:38136308..38139120-chr17:38254735..38257246,2	MCF-7	breast:
8	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
9	chr17:38137876..38139862-chr17:38253958..38255577,2	K562	blood:
10	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
11	chr17:38255428..38255966-chr6:43968719..43969479,2	Hela-S3	cervix:
12	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
13	chr17:38218447..38220778-chr17:38254476..38256846,3	K562	blood:
14	chr17:37822718..37824685-chr17:38254119..38256837,4	K562	blood:
15	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
16	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
17	chr17:38179137..38180988-chr17:38255359..38257668,2	MCF-7	breast:
18	chr17:38169185..38171597-chr17:38253858..38256821,3	K562	blood:
19	chr1:43854894..43855677-chr17:38255405..38256315,2	Hela-S3	cervix:
20	chr17:38255479..38257597-chr17:38472863..38476032,4	MCF-7	breast:
21	chr17:38209724..38212564-chr17:38253281..38256740,3	K562	blood:
22	chr17:38224768..38231268-chr17:38252636..38258126,7	K562	blood:
23	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
24	chr17:37822718..37824669-chr17:38254202..38256837,3	K562	blood:
25	chr17:38171795..38174739-chr17:38253717..38256695,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265799	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000159479	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000198198	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000108344	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38251200-38255600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:38253400-38255600	Enhancers	Primary B cells from cord blood	blood
3	chr17:38253600-38255600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:38254000-38255800	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:38254200-38257400	Active TSS	Ovary	ovary
6	chr17:38254200-38257600	Flanking Active TSS	Dnd41	blood
7	chr17:38254200-38257800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr17:38254400-38257400	Flanking Active TSS	Fetal Thymus	thymus
9	chr17:38254400-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:38254600-38255600	Weak transcription	Gastric	stomach
11	chr17:38254600-38255600	Enhancers	Spleen	Spleen
12	chr17:38254600-38257400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr17:38254600-38257600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr17:38254600-38257600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr17:38254600-38257600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr17:38254800-38255600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:38254800-38255600	Weak transcription	Lung	lung
18	chr17:38254800-38255800	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr17:38254800-38256800	Flanking Active TSS	Thymus	Thymus
20	chr17:38254800-38257200	Active TSS	Right Ventricle	heart
21	chr17:38254800-38257400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr17:38254800-38257800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:38254800-38257800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:38255000-38256000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr17:38255000-38256000	Flanking Active TSS	Fetal Stomach	stomach
26	chr17:38255000-38256800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:38255000-38256800	Flanking Active TSS	Placenta	Placenta
28	chr17:38255000-38257200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr17:38255000-38257200	Active TSS	Brain Cingulate Gyrus	brain
30	chr17:38255000-38257200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr17:38255000-38257600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:38255000-38257600	Active TSS	Psoas Muscle	Psoas
33	chr17:38255000-38257800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr17:38255200-38255600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr17:38255200-38255600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr17:38255200-38255600	Enhancers	Primary T cells from cord blood	blood
37	chr17:38255200-38255600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:38255200-38255600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:38255200-38255600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr17:38255200-38255600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:38255200-38255600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr17:38255200-38255600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr17:38255200-38255600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:38255200-38255600	Enhancers	Fetal Brain Male	brain
45	chr17:38255200-38255600	Active TSS	Fetal Brain Female	brain
46	chr17:38255200-38255600	Active TSS	Fetal Intestine Large	intestine
47	chr17:38255200-38255600	Active TSS	Fetal Intestine Small	intestine
48	chr17:38255200-38255600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr17:38255200-38255600	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr17:38255200-38255600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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