Variant report

Variant	rs11648868
Chromosome Location	chr16:74541967-74541968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74540631..74542390-chr16:74543747..74546659,2	K562	blood:
2	chr16:74539803..74542513-chr16:74659240..74661009,2	MCF-7	breast:
3	chr16:74536407..74538913-chr16:74540581..74542783,4	K562	blood:
4	chr16:74536407..74538913-chr16:74541075..74542783,2	K562	blood:
5	chr16:74534594..74537165-chr16:74541899..74543911,2	MCF-7	breast:
6	chr16:74539035..74543243-chr16:74640061..74641958,3	MCF-7	breast:
7	chr16:74541219..74543835-chr16:74544667..74546562,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1019572	1.00[JPT][hapmap]
rs1019573	1.00[JPT][hapmap]
rs10500587	1.00[JPT][hapmap]
rs11149722	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs11639812	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11640021	0.81[ASN][1000 genomes]
rs11641958	0.85[ASN][1000 genomes]
rs11644298	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]
rs11648786	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12325017	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12445991	0.92[JPT][hapmap]
rs12446054	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12446095	0.84[ASN][1000 genomes]
rs12446217	0.84[ASN][1000 genomes]
rs12448026	0.81[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap]
rs12449071	0.84[ASN][1000 genomes]
rs12598701	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12716768	0.81[ASN][1000 genomes]
rs12927939	0.86[ASN][1000 genomes]
rs12930645	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13339161	0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13339456	0.82[ASN][1000 genomes]
rs13359	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs13380609	0.83[ASN][1000 genomes]
rs1469140	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17672539	0.83[ASN][1000 genomes]
rs2098754	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2288053	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs2303275	0.93[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs2303278	1.00[JPT][hapmap]
rs2303281	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28762730	0.84[ASN][1000 genomes]
rs3785312	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3826239	0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs3851729	0.92[JPT][hapmap]
rs4072222	0.92[JPT][hapmap]
rs4072450	0.84[JPT][hapmap]
rs4243108	0.80[CHD][hapmap];0.84[JPT][hapmap]
rs4438331	1.00[ASW][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs4600490	0.95[CHD][hapmap];0.84[JPT][hapmap]
rs4887772	0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4887776	0.92[JPT][hapmap]
rs4887777	0.92[JPT][hapmap]
rs4887779	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4888238	0.90[CHD][hapmap];1.00[JPT][hapmap]
rs4888240	0.81[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4888242	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs4888253	0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4888256	0.81[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs4888262	0.92[JPT][hapmap]
rs4888265	0.85[JPT][hapmap]
rs4888266	0.92[JPT][hapmap]
rs4888267	0.90[JPT][hapmap]
rs4888274	0.92[JPT][hapmap]
rs6564117	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6564154	0.81[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap]
rs67414268	0.81[AFR][1000 genomes]
rs7185026	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs7188197	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7189123	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7190577	0.87[ASN][1000 genomes]
rs7191665	0.92[JPT][hapmap]
rs7193959	0.92[JPT][hapmap]
rs7194143	1.00[ASW][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs7195196	0.83[ASN][1000 genomes]
rs7195198	0.83[ASN][1000 genomes]
rs7201320	0.86[JPT][hapmap]
rs7203452	0.81[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap]
rs7204804	0.81[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap]
rs7205258	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs7342732	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs7978	0.92[JPT][hapmap]
rs8045848	0.90[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs8049428	1.00[YRI][hapmap]
rs8050624	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs8052923	0.92[JPT][hapmap]
rs8053599	0.85[ASN][1000 genomes]
rs8055784	0.81[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap]
rs8058133	0.92[JPT][hapmap]
rs8058692	0.81[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap]
rs8058922	0.81[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap]
rs8059869	0.92[JPT][hapmap]
rs8062783	0.86[JPT][hapmap]
rs918782	0.81[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9888976	0.84[JPT][hapmap]
rs9923145	0.92[JPT][hapmap]
rs9923616	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9927073	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs9929483	0.81[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap]
rs9931225	0.92[JPT][hapmap]
rs9932831	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]
rs9938833	0.81[CHB][hapmap];0.80[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11648868	MLKL	cis	multi-tissue	Pritchard
rs11648868	TMEM170A	cis	cerebellum	SCAN
rs11648868	IL34	cis	cerebellum	SCAN

Chromatin state (count:119 , 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	chr16:74508600-74544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:74522000-74542400	Weak transcription	NHDF-Ad	bronchial
5	chr16:74522000-74544600	Weak transcription	Right Ventricle	heart
6	chr16:74525200-74542000	Weak transcription	K562	blood
7	chr16:74525200-74565200	Weak transcription	Fetal Brain Male	brain
8	chr16:74525400-74543000	Weak transcription	NHLF	lung
9	chr16:74525400-74561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:74525400-74572200	Weak transcription	HUVEC	blood vessel
11	chr16:74526400-74544000	Weak transcription	Fetal Brain Female	brain
12	chr16:74527200-74544600	Weak transcription	Gastric	stomach
13	chr16:74527200-74544800	Weak transcription	Ovary	ovary
14	chr16:74527200-74545800	Weak transcription	Spleen	Spleen
15	chr16:74527200-74555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:74527400-74554600	Weak transcription	HSMMtube	muscle
17	chr16:74528000-74547600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:74528400-74555800	Weak transcription	Small Intestine	intestine
19	chr16:74530000-74544800	Weak transcription	A549	lung
20	chr16:74530400-74546200	Weak transcription	Lung	lung
21	chr16:74530600-74544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:74530800-74542000	Weak transcription	HSMM	muscle
23	chr16:74530800-74558600	Weak transcription	Fetal Lung	lung
24	chr16:74533200-74543000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr16:74535400-74543000	Strong transcription	HepG2	liver
26	chr16:74535800-74557800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr16:74536000-74543600	Weak transcription	Pancreas	Pancrea
28	chr16:74536000-74544000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:74536000-74544200	Weak transcription	Brain Germinal Matrix	brain
30	chr16:74536000-74558600	Weak transcription	Dnd41	blood
31	chr16:74536000-74563800	Weak transcription	Fetal Kidney	kidney
32	chr16:74536200-74542000	Weak transcription	Stomach Mucosa	stomach
33	chr16:74536200-74543800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:74536200-74555400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:74536200-74555800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:74536200-74556200	Weak transcription	Aorta	Aorta
37	chr16:74536400-74543200	Weak transcription	Brain Angular Gyrus	brain
38	chr16:74536600-74544200	Weak transcription	Fetal Heart	heart
39	chr16:74537400-74567000	Weak transcription	Colon Smooth Muscle	Colon
40	chr16:74537600-74542400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr16:74537600-74548800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:74537600-74549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:74537600-74555000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:74537600-74559200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:74537600-74565200	Weak transcription	Colonic Mucosa	Colon
46	chr16:74537600-74568600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:74537600-74579800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr16:74537600-74604800	Weak transcription	Thymus	Thymus
49	chr16:74537800-74542000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:74537800-74542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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