Variant report

Variant	rs17071331
Chromosome Location	chr13:48718389-48718390
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	chr13:48705406..48707742-chr13:48718152..48719712,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1359615	0.97[AMR][1000 genomes]
rs4941625	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4941626	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4942745	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57898553	0.92[AMR][1000 genomes]
rs7992167	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17071331	GALNT9	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:48715600-48720600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:48716200-48720000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr13:48716400-48718800	Weak transcription	Lung	lung
5	chr13:48716600-48726000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:48717000-48718600	Weak transcription	HepG2	liver
7	chr13:48717000-48718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:48717000-48718800	Weak transcription	GM12878-XiMat	blood
9	chr13:48717200-48718400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr13:48717200-48722400	Weak transcription	Thymus	Thymus
11	chr13:48717400-48733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:48717800-48719400	Enhancers	Primary B cells from peripheral blood	blood
13	chr13:48718000-48718400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr13:48718000-48718800	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:48718000-48719000	Enhancers	Primary T cells from cord blood	blood
16	chr13:48718000-48719000	Enhancers	Colon Smooth Muscle	Colon
17	chr13:48718000-48719000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr13:48718000-48719200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:48718000-48719200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr13:48718000-48719200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr13:48718000-48719200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:48718000-48719200	Enhancers	Adipose Nuclei	Adipose
23	chr13:48718000-48719200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:48718000-48719200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr13:48718000-48719200	Enhancers	Spleen	Spleen
26	chr13:48718000-48719400	Enhancers	Primary hematopoietic stem cells	blood
27	chr13:48718000-48719400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:48718200-48718600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:48718200-48719000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr13:48718200-48719200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr13:48718200-48719200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr13:48718200-48719400	Enhancers	Primary B cells from cord blood	blood
33	chr13:48718200-48719400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:48718200-48719600	Enhancers	HUVEC	blood vessel

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