Variant report

Variant	rs9932831
Chromosome Location	chr16:74637636-74637637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74622797..74625662-chr16:74635267..74638190,2	K562	blood:
2	chr16:74637522..74639307-chr16:74639433..74640969,2	K562	blood:
3	chr16:74624724..74627496-chr16:74637454..74640972,3	MCF-7	breast:
4	chr16:74635090..74638243-chr16:74699211..74701869,3	K562	blood:

Variant related genes	Relation type
ENSG00000262904	Chromatin interaction
ENSG00000168411	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1019572	0.92[JPT][hapmap]
rs1019573	0.92[JPT][hapmap]
rs10400930	0.90[ASN][1000 genomes]
rs10500587	0.92[JPT][hapmap]
rs11149722	0.92[JPT][hapmap]
rs11639812	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs11644298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11648868	1.00[ASW][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs12325017	0.92[JPT][hapmap]
rs12445991	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12446054	0.92[JPT][hapmap]
rs12448026	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs12598701	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs12921903	0.89[ASN][1000 genomes]
rs13339156	0.89[ASN][1000 genomes]
rs13339161	0.81[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs13359	0.92[JPT][hapmap]
rs1469140	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs2098754	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs2288053	0.92[JPT][hapmap]
rs2303275	0.92[JPT][hapmap]
rs2303278	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs2303281	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs28377859	0.89[ASN][1000 genomes]
rs28502731	0.88[ASN][1000 genomes]
rs3785312	0.92[JPT][hapmap]
rs3826239	0.92[JPT][hapmap]
rs3851729	0.85[JPT][hapmap]
rs4072222	1.00[JPT][hapmap]
rs4072450	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs4243108	0.81[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs4271617	0.82[ASN][1000 genomes]
rs4286131	0.82[ASN][1000 genomes]
rs4287593	0.82[ASN][1000 genomes]
rs4302071	0.90[ASN][1000 genomes]
rs4316784	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4344772	0.85[ASN][1000 genomes]
rs4438331	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548905	0.90[ASN][1000 genomes]
rs4564599	0.83[ASN][1000 genomes]
rs4600490	0.81[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap]
rs4887772	0.81[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4887776	0.81[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4887777	1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4887779	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4888238	0.92[JPT][hapmap]
rs4888240	0.85[JPT][hapmap]
rs4888242	0.92[JPT][hapmap]
rs4888253	0.81[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap]
rs4888256	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4888257	0.83[ASN][1000 genomes]
rs4888258	0.90[ASN][1000 genomes]
rs4888259	0.91[ASN][1000 genomes]
rs4888262	0.85[JPT][hapmap]
rs4888266	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4888267	0.81[JPT][hapmap]
rs4888274	0.85[JPT][hapmap]
rs6564117	0.92[JPT][hapmap]
rs6564145	0.83[ASN][1000 genomes]
rs6564146	0.85[ASN][1000 genomes]
rs6564147	0.86[ASN][1000 genomes]
rs6564148	0.91[ASN][1000 genomes]
rs6564149	0.88[ASN][1000 genomes]
rs6564152	0.87[ASN][1000 genomes]
rs6564153	0.87[ASN][1000 genomes]
rs6564154	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6564157	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6564159	0.85[JPT][hapmap]
rs7184754	0.83[ASN][1000 genomes]
rs7185026	0.90[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap]
rs7185722	0.87[ASN][1000 genomes]
rs7189123	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs7191665	0.85[JPT][hapmap]
rs7193423	0.89[ASN][1000 genomes]
rs7193508	0.89[ASN][1000 genomes]
rs7193583	0.88[ASN][1000 genomes]
rs7193959	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7194143	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[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];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7194687	0.88[ASN][1000 genomes]
rs7195135	0.86[ASN][1000 genomes]
rs7196369	0.85[JPT][hapmap]
rs7201075	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7203452	0.90[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]
rs7204382	0.89[CHB][hapmap];0.85[CHD][hapmap]
rs7204804	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7205258	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7342732	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7978	0.85[JPT][hapmap]
rs8044278	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8045848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8047243	0.84[ASN][1000 genomes]
rs8048596	0.85[ASN][1000 genomes]
rs8049428	1.00[YRI][hapmap]
rs8050615	0.84[ASN][1000 genomes]
rs8050624	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8052923	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs8053084	0.88[ASN][1000 genomes]
rs8055784	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs8055803	0.84[ASN][1000 genomes]
rs8056718	0.82[ASN][1000 genomes]
rs8057279	0.89[ASN][1000 genomes]
rs8058034	0.90[ASN][1000 genomes]
rs8058133	0.85[JPT][hapmap]
rs8058437	0.84[ASN][1000 genomes]
rs8058692	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs8058922	0.90[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs8059869	0.85[JPT][hapmap]
rs8060923	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8062404	0.82[ASN][1000 genomes]
rs8062959	0.89[ASN][1000 genomes]
rs918782	0.90[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs9888976	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs9921672	0.88[ASN][1000 genomes]
rs9923145	0.85[JPT][hapmap]
rs9923616	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs9924716	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9925807	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9927073	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9928181	0.90[ASN][1000 genomes]
rs9929483	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs9931225	1.00[JPT][hapmap]
rs9938833	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]

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	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
2	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
3	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
4	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
5	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
6	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
7	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9932831	MLKL	cis	cerebellum	SCAN
rs9932831	MLKL	cis	lymphoblastoid	seeQTL
rs9932831	MLKL	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
2	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
3	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:74615400-74637800	Weak transcription	HSMM	muscle
5	chr16:74615800-74637800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:74618000-74638400	Weak transcription	Brain Substantia Nigra	brain
7	chr16:74624200-74638600	Weak transcription	Placenta	Placenta
8	chr16:74624200-74639200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr16:74626000-74637800	Weak transcription	Fetal Brain Male	brain
10	chr16:74627000-74638000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:74628000-74638800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:74628600-74638000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr16:74628600-74638200	Weak transcription	Colonic Mucosa	Colon
14	chr16:74628800-74638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:74629200-74637800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:74630800-74638600	Weak transcription	Right Ventricle	heart
17	chr16:74631000-74637800	Weak transcription	NHLF	lung
18	chr16:74631200-74639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:74631600-74637800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:74632200-74637800	Weak transcription	Fetal Stomach	stomach
21	chr16:74632200-74638600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:74632200-74638600	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:74632200-74638800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr16:74632600-74639200	Weak transcription	Fetal Intestine Small	intestine
25	chr16:74632800-74637800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:74633400-74637800	Weak transcription	Fetal Intestine Large	intestine
27	chr16:74633800-74638000	Enhancers	Primary B cells from peripheral blood	blood
28	chr16:74634400-74638200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:74634600-74640200	Weak transcription	Spleen	Spleen
30	chr16:74635000-74637800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:74635000-74639200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:74635400-74637800	Weak transcription	Fetal Thymus	thymus
33	chr16:74635400-74638600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:74635600-74637800	Enhancers	HepG2	liver
35	chr16:74635600-74638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:74635800-74637800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:74635800-74637800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr16:74635800-74637800	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:74635800-74638200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr16:74635800-74638600	Weak transcription	Thymus	Thymus
41	chr16:74635800-74639000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:74635800-74639200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:74635800-74639200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr16:74635800-74639200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr16:74635800-74639200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr16:74635800-74639200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:74636000-74637800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr16:74636000-74637800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr16:74636000-74637800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr16:74636000-74637800	Weak transcription	Brain Angular Gyrus	brain

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