Variant report

Variant	rs9932735
Chromosome Location	chr16:74607239-74607240
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74606439..74608436-chr16:74656696..74658823,2	K562	blood:
2	chr16:74604462..74608265-chr16:74639242..74641794,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28683674	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3923201	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4888255	0.92[ASN][1000 genomes]
rs4888256	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4888257	0.82[AMR][1000 genomes]
rs6564141	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6564146	0.81[AMR][1000 genomes]
rs71392603	0.80[EUR][1000 genomes]
rs7185026	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7201105	0.81[ASN][1000 genomes]
rs7203452	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8047243	0.82[ASN][1000 genomes]
rs8048596	0.82[AMR][1000 genomes]
rs8049138	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8050668	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053084	0.81[AMR][1000 genomes]
rs8055803	0.82[ASN][1000 genomes]
rs8056718	0.84[ASN][1000 genomes]
rs8058437	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8058692	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8062404	0.84[ASN][1000 genomes]
rs9888968	0.82[ASN][1000 genomes]
rs9930003	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
3	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9932735	RFWD3	cis	brain	BrainEAC
rs9932735	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs9932735	RFWD3	cis	Esophagus Mucosa	GTEx
rs9932735	MLKL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74563200-74622400	Weak transcription	Fetal Stomach	stomach
2	chr16:74583000-74617200	Weak transcription	Fetal Muscle Leg	muscle
3	chr16:74587600-74612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
5	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:74590200-74614600	Weak transcription	Adipose Nuclei	Adipose
7	chr16:74590400-74607600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr16:74591000-74624000	Weak transcription	Aorta	Aorta
9	chr16:74591800-74613600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr16:74593200-74608600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr16:74595000-74622600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr16:74595200-74607400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:74595800-74608400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr16:74596000-74614400	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:74596200-74609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:74596400-74607800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:74598000-74608600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:74598200-74607600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:74598200-74609200	Weak transcription	A549	lung
20	chr16:74598400-74607600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:74598600-74622600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:74599000-74611000	Weak transcription	Spleen	Spleen
23	chr16:74599600-74623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:74599800-74607800	Weak transcription	GM12878-XiMat	blood
25	chr16:74600000-74607600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr16:74600200-74616800	Weak transcription	Fetal Kidney	kidney
27	chr16:74602200-74607400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:74603400-74610800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:74603400-74611800	Weak transcription	NHDF-Ad	bronchial
30	chr16:74603400-74611800	Weak transcription	Osteobl	bone
31	chr16:74603600-74608000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:74603600-74610000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:74603800-74607800	Weak transcription	NHEK	skin
34	chr16:74604000-74608600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr16:74604600-74607800	Weak transcription	Fetal Brain Female	brain
36	chr16:74605000-74609000	Weak transcription	Right Atrium	heart
37	chr16:74605000-74609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:74605000-74613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:74605200-74607600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:74605200-74607600	Weak transcription	Right Ventricle	heart
41	chr16:74605200-74607800	Weak transcription	Brain Anterior Caudate	brain
42	chr16:74605200-74608000	Weak transcription	Fetal Heart	heart
43	chr16:74605200-74610000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:74605200-74612200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr16:74605200-74614000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:74605200-74614400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:74605200-74617000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:74605200-74617600	Weak transcription	Ovary	ovary
49	chr16:74605200-74630600	Weak transcription	Fetal Lung	lung
50	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus

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