Variant report

Variant	rs17557349
Chromosome Location	chr3:142729351-142729352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142728900..142732150-chr3:142733667..142735760,5	K562	blood:

Variant related genes	Relation type
ENSG00000163714	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10935476	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11917259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1353887	0.85[JPT][hapmap]
rs1531139	0.96[CEU][hapmap];0.84[TSI][hapmap]
rs16852909	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17633378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1869894	0.85[EUR][1000 genomes]
rs2124544	0.85[ASN][1000 genomes]
rs2173599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2353407	0.86[EUR][1000 genomes]
rs41374546	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap]
rs59510635	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60356687	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73157700	0.86[EUR][1000 genomes]
rs936198	0.91[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap]
rs9821734	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17557349	U2SURP	cis	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142721400-142735800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:142721600-142739400	Weak transcription	Lung	lung
3	chr3:142721800-142730800	Weak transcription	Placenta	Placenta
4	chr3:142721800-142734800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:142721800-142736400	Weak transcription	Ovary	ovary
6	chr3:142721800-142739200	Weak transcription	Colonic Mucosa	Colon
7	chr3:142721800-142761800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:142722000-142729600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:142722000-142733000	Weak transcription	Brain Anterior Caudate	brain
10	chr3:142722000-142735800	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:142722000-142735800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:142722000-142737000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:142722000-142739000	Weak transcription	Right Ventricle	heart
14	chr3:142722000-142742400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:142722200-142729400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:142722200-142730200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:142722200-142730600	Weak transcription	Fetal Intestine Large	intestine
18	chr3:142722200-142730800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:142722200-142735800	Weak transcription	Brain Germinal Matrix	brain
20	chr3:142722200-142735800	Weak transcription	Fetal Brain Female	brain
21	chr3:142722200-142736400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:142722200-142737000	Weak transcription	Fetal Heart	heart
23	chr3:142722200-142739000	Weak transcription	Brain Angular Gyrus	brain
24	chr3:142722200-142743000	Weak transcription	Brain Substantia Nigra	brain
25	chr3:142722400-142729600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:142722400-142730400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:142722400-142730400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:142722400-142730400	Weak transcription	HUVEC	blood vessel
29	chr3:142722400-142730600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:142722400-142731000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:142722400-142731000	Weak transcription	Adipose Nuclei	Adipose
32	chr3:142722400-142732800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:142722400-142733200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:142722400-142734600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:142722400-142735200	Weak transcription	Fetal Lung	lung
36	chr3:142722400-142735800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:142722600-142729600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:142722800-142730200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:142723000-142730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:142723000-142730600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:142723000-142735200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:142723200-142730200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr3:142723200-142730400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:142723200-142736000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr3:142723400-142730200	Weak transcription	Fetal Thymus	thymus
46	chr3:142723400-142730400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr3:142723600-142731000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:142723600-142739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:142723800-142730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:142723800-142730400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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