Variant report

Variant	rs17538328
Chromosome Location	chr7:40134678-40134679
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	chr7:40130215..40132846-chr7:40133657..40135422,2	K562	blood:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10046564	1.00[CHD][hapmap]
rs1060818	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17171652	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17538230	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17538342	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41350846	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6945703	1.00[ASN][1000 genomes]
rs6963037	0.84[CEU][hapmap];1.00[CHD][hapmap]
rs7795333	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795919	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]
rs9655407	1.00[CHD][hapmap]
rs9691475	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429748	chr7:40054760-40140660	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
6	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17538328	STK17A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40116400-40136000	Weak transcription	Fetal Brain Male	brain
2	chr7:40117600-40138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:40118600-40136600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr7:40119800-40135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:40122400-40135800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:40122800-40137600	Strong transcription	Dnd41	blood
7	chr7:40124000-40135000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:40124000-40137600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:40124000-40137800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:40124000-40138400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:40124400-40136000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:40124400-40136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:40124400-40137800	Strong transcription	Primary T cells from cord blood	blood
14	chr7:40124800-40134800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:40125000-40137600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:40125200-40135800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:40125800-40135800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:40125800-40136000	Strong transcription	Fetal Thymus	thymus
19	chr7:40125800-40136200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:40125800-40137600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr7:40125800-40137800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:40126000-40142400	Weak transcription	Fetal Heart	heart
23	chr7:40126600-40135200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:40126600-40136400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:40126600-40137200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:40126800-40135600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:40127400-40135000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:40127400-40135000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:40127400-40135600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:40127400-40136600	Strong transcription	Primary B cells from cord blood	blood
31	chr7:40127400-40137600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:40127600-40135200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:40127600-40136000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:40127600-40136400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:40127800-40135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:40127800-40135800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr7:40127800-40136600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:40130400-40134800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:40130800-40135000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:40130800-40137000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:40131000-40135600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:40131000-40136000	Strong transcription	Osteobl	bone
43	chr7:40131000-40137800	Strong transcription	HSMM	muscle
44	chr7:40131200-40135000	Strong transcription	HSMMtube	muscle
45	chr7:40131200-40135000	Strong transcription	NHDF-Ad	bronchial
46	chr7:40131200-40135200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:40131200-40135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:40131200-40136200	Strong transcription	K562	blood
49	chr7:40131200-40136400	Strong transcription	A549	lung
50	chr7:40131200-40136600	Strong transcription	Placenta	Placenta

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