Variant report

Variant	rs11644298
Chromosome Location	chr16:74536300-74536301
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	chr16:74535608..74538599-chr16:74639550..74642585,3	MCF-7	breast:
2	chr16:74534594..74537165-chr16:74541899..74543911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1019572	1.00[JPT][hapmap]
rs1019573	1.00[JPT][hapmap]
rs10500587	1.00[JPT][hapmap]
rs11149722	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs11639812	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs11640021	0.86[ASN][1000 genomes]
rs11641958	0.89[ASN][1000 genomes]
rs11648786	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11648868	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12325017	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12445991	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs12446054	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12446095	0.89[ASN][1000 genomes]
rs12446217	0.85[ASN][1000 genomes]
rs12448026	0.90[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs12449071	0.89[ASN][1000 genomes]
rs12449125	0.80[ASN][1000 genomes]
rs12598701	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12716768	0.86[ASN][1000 genomes]
rs12927939	0.86[ASN][1000 genomes]
rs12930645	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339161	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13339456	0.86[ASN][1000 genomes]
rs13359	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs13380609	0.87[ASN][1000 genomes]
rs1469140	0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17672539	0.88[ASN][1000 genomes]
rs1985611	0.80[ASN][1000 genomes]
rs2098754	0.80[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2288053	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs2303275	1.00[ASW][hapmap];0.80[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs2303277	0.83[ASN][1000 genomes]
rs2303278	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2303281	0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2549559	0.82[ASN][1000 genomes]
rs2550816	0.80[ASN][1000 genomes]
rs28762730	0.88[ASN][1000 genomes]
rs35209570	0.84[ASN][1000 genomes]
rs3785312	1.00[JPT][hapmap]
rs3826239	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs3851729	0.92[JPT][hapmap]
rs3973385	0.80[ASN][1000 genomes]
rs4072222	0.92[JPT][hapmap]
rs4072450	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4243108	0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs4438331	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]
rs4600490	0.82[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs4887772	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4887776	0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4887777	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4887779	0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs4888238	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4888240	0.90[CHD][hapmap];0.92[JPT][hapmap]
rs4888242	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4888253	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4888256	0.90[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs4888262	0.92[JPT][hapmap]
rs4888265	0.85[JPT][hapmap]
rs4888266	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4888267	0.90[JPT][hapmap]
rs4888274	0.92[JPT][hapmap]
rs6564117	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs6564154	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs6564157	0.82[CHB][hapmap]
rs67414268	0.91[AFR][1000 genomes]
rs7185026	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7188050	0.84[ASN][1000 genomes]
rs7188197	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7189123	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7190577	0.92[ASN][1000 genomes]
rs7191665	0.92[JPT][hapmap]
rs7193959	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7194143	0.94[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]
rs7195020	0.81[ASN][1000 genomes]
rs7195196	0.88[ASN][1000 genomes]
rs7195198	0.88[ASN][1000 genomes]
rs7201320	0.86[JPT][hapmap]
rs7203452	0.90[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs7204382	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs7204804	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs7205258	0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs7342732	0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs7978	0.92[JPT][hapmap]
rs8045848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8050624	0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs8052923	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs8053599	0.89[ASN][1000 genomes]
rs8055784	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs8058133	0.92[JPT][hapmap]
rs8058692	0.90[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs8058922	0.90[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs8059869	0.92[JPT][hapmap]
rs8062783	0.86[JPT][hapmap]
rs918782	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9888976	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs9923145	0.92[JPT][hapmap]
rs9923616	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9927073	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs9927502	0.84[GIH][hapmap]
rs9929483	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs9931225	0.92[JPT][hapmap]
rs9932831	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]
rs9938833	0.90[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
3	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
4	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428806	chr16:74394226-74580125	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv833278	chr16:74415944-74584123	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv978169	chr16:74507776-74560104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	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
14	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11644298	MLKL	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:74498800-74544400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:74499200-74539200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:74503800-74537200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:74508600-74544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:74522000-74542400	Weak transcription	NHDF-Ad	bronchial
7	chr16:74522000-74544600	Weak transcription	Right Ventricle	heart
8	chr16:74525200-74539600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:74525200-74542000	Weak transcription	K562	blood
10	chr16:74525200-74565200	Weak transcription	Fetal Brain Male	brain
11	chr16:74525400-74537200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:74525400-74543000	Weak transcription	NHLF	lung
13	chr16:74525400-74561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:74525400-74572200	Weak transcription	HUVEC	blood vessel
15	chr16:74526400-74544000	Weak transcription	Fetal Brain Female	brain
16	chr16:74526600-74536800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:74527200-74537400	Weak transcription	NHEK	skin
18	chr16:74527200-74541400	Weak transcription	Esophagus	oesophagus
19	chr16:74527200-74544600	Weak transcription	Gastric	stomach
20	chr16:74527200-74544800	Weak transcription	Ovary	ovary
21	chr16:74527200-74545800	Weak transcription	Spleen	Spleen
22	chr16:74527200-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:74527400-74539200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:74527400-74554600	Weak transcription	HSMMtube	muscle
25	chr16:74527600-74537200	Weak transcription	Hela-S3	cervix
26	chr16:74527600-74537600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:74528000-74547600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:74528200-74539400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:74528200-74541800	Weak transcription	Left Ventricle	heart
30	chr16:74528400-74555800	Weak transcription	Small Intestine	intestine
31	chr16:74529000-74537200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:74529600-74537200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:74530000-74538000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr16:74530000-74544800	Weak transcription	A549	lung
35	chr16:74530200-74536800	Weak transcription	Colonic Mucosa	Colon
36	chr16:74530400-74536800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:74530400-74537000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:74530400-74546200	Weak transcription	Lung	lung
39	chr16:74530600-74537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:74530600-74544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:74530800-74542000	Weak transcription	HSMM	muscle
42	chr16:74530800-74558600	Weak transcription	Fetal Lung	lung
43	chr16:74532800-74539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:74533000-74539400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr16:74533000-74539600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr16:74533200-74543000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:74533400-74536400	Enhancers	Brain Hippocampus Middle	brain
48	chr16:74533600-74539400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr16:74533800-74538200	Strong transcription	Primary B cells from cord blood	blood
50	chr16:74534000-74536400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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