Variant report

Variant	rs9928218
Chromosome Location	chr16:30384400-30384401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30381749..30384813-chr16:30709284..30711839,3	MCF-7	breast:
2	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
3	chr16:30382922..30384905-chr16:30669904..30671484,2	MCF-7	breast:
4	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
5	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:
6	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000080603	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000156860	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13330462	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335932	1.00[ASW][hapmap];0.97[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28404428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072354	0.82[ASW][hapmap];1.00[ASN][1000 genomes]
rs4341758	1.00[ASN][1000 genomes]
rs73532587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926426	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926923	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9928218	SLC7A5P1	cis	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30381800-30388600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:30382400-30384600	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr16:30382600-30384400	Enhancers	Fetal Heart	heart
4	chr16:30382600-30384400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr16:30382800-30384400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:30382800-30384600	Enhancers	Pancreas	Pancrea
7	chr16:30382800-30388000	Weak transcription	Colonic Mucosa	Colon
8	chr16:30382800-30388600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:30383000-30384400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:30383000-30384400	Enhancers	Psoas Muscle	Psoas
11	chr16:30383000-30384400	Enhancers	Thymus	Thymus
12	chr16:30383000-30384600	Enhancers	Brain Anterior Caudate	brain
13	chr16:30383000-30384600	Enhancers	Fetal Thymus	thymus
14	chr16:30383000-30384800	Weak transcription	Liver	Liver
15	chr16:30383000-30387000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:30383000-30387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr16:30383000-30387400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:30383000-30387400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:30383000-30388000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:30383000-30388000	Weak transcription	Fetal Intestine Small	intestine
21	chr16:30383000-30388200	Weak transcription	Fetal Intestine Large	intestine
22	chr16:30383000-30388400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:30383000-30388400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:30383000-30388400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:30383000-30388400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:30383000-30388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:30383000-30388600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:30383000-30388600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:30383000-30388600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:30383000-30388600	Weak transcription	Esophagus	oesophagus
31	chr16:30383000-30388600	Weak transcription	HUVEC	blood vessel
32	chr16:30383000-30388600	Weak transcription	NHEK	skin
33	chr16:30383000-30388600	Weak transcription	Osteobl	bone
34	chr16:30383200-30384400	Enhancers	Brain Cingulate Gyrus	brain
35	chr16:30383200-30386800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:30383200-30386800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:30383200-30387000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:30383200-30387200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:30383200-30387200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:30383200-30387200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:30383200-30387600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr16:30383200-30387800	Weak transcription	Primary T cells from cord blood	blood
43	chr16:30383200-30387800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:30383200-30387800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:30383200-30387800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:30383200-30388000	Weak transcription	Primary B cells from cord blood	blood
47	chr16:30383200-30388000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:30383200-30388200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr16:30383200-30388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:30383200-30388400	Weak transcription	Colon Smooth Muscle	Colon

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