Variant report

Variant	rs17548850
Chromosome Location	chr3:138372984-138372985
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138372748..138374858-chr3:138383683..138385641,2	K562	blood:
2	chr3:138355271..138356796-chr3:138371743..138374136,2	K562	blood:
3	chr3:138366382..138369111-chr3:138372165..138373999,2	K562	blood:
4	chr3:138366382..138369561-chr3:138372165..138374975,3	K562	blood:
5	chr3:138327416..138329320-chr3:138370308..138373534,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158234	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10513055	1.00[ASN][1000 genomes]
rs11708762	1.00[CHB][hapmap]
rs12631035	1.00[CHB][hapmap]
rs34641321	1.00[ASN][1000 genomes]
rs34802531	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364608	1.00[ASN][1000 genomes]
rs4894359	1.00[CHB][hapmap]
rs546764	1.00[ASN][1000 genomes]
rs62280707	1.00[ASN][1000 genomes]
rs62280718	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282164	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282234	1.00[ASN][1000 genomes]
rs6773514	1.00[CHB][hapmap]
rs73229524	1.00[ASN][1000 genomes]
rs7613579	1.00[CHB][hapmap]
rs774016	1.00[ASN][1000 genomes]

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	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138340400-138393800	Weak transcription	Fetal Brain Male	brain
2	chr3:138360800-138407600	Weak transcription	HUVEC	blood vessel
3	chr3:138364400-138459200	Weak transcription	Psoas Muscle	Psoas
4	chr3:138367200-138374200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:138367600-138381000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:138367800-138377600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:138368000-138374000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:138368000-138376800	Strong transcription	Left Ventricle	heart
9	chr3:138368000-138377800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:138368000-138378200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr3:138368400-138380200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:138368600-138378000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr3:138368600-138382600	Weak transcription	HSMMtube	muscle
14	chr3:138368800-138374000	Weak transcription	Fetal Heart	heart
15	chr3:138368800-138376800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:138368800-138377200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr3:138368800-138377400	Strong transcription	Fetal Intestine Large	intestine
18	chr3:138368800-138378600	Strong transcription	Placenta	Placenta
19	chr3:138368800-138386600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:138368800-138392400	Weak transcription	HMEC	breast
21	chr3:138368800-138400200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:138368800-138422600	Weak transcription	Right Atrium	heart
23	chr3:138369000-138373000	Strong transcription	Fetal Stomach	stomach
24	chr3:138369000-138374200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:138369000-138378400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:138369000-138382600	Weak transcription	Aorta	Aorta
27	chr3:138369000-138390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:138369000-138392400	Weak transcription	HSMM	muscle
29	chr3:138369000-138493000	Weak transcription	Fetal Lung	lung
30	chr3:138369200-138373200	Strong transcription	Fetal Intestine Small	intestine
31	chr3:138369200-138373800	Weak transcription	Brain Germinal Matrix	brain
32	chr3:138369200-138373800	Weak transcription	Lung	lung
33	chr3:138369200-138373800	Weak transcription	Spleen	Spleen
34	chr3:138369200-138374000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr3:138369200-138374200	Weak transcription	Brain Angular Gyrus	brain
36	chr3:138369200-138374200	Weak transcription	Ovary	ovary
37	chr3:138369200-138374200	Weak transcription	Right Ventricle	heart
38	chr3:138369200-138374400	Weak transcription	NHDF-Ad	bronchial
39	chr3:138369200-138374600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:138369200-138375000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:138369200-138375600	Weak transcription	Colonic Mucosa	Colon
42	chr3:138369200-138375600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:138369200-138378000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:138369200-138378600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:138369200-138378800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr3:138369200-138380000	Weak transcription	Fetal Brain Female	brain
47	chr3:138369200-138380800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:138369200-138381000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:138369200-138382600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:138369200-138382600	Weak transcription	Primary B cells from cord blood	blood

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