Variant report

Variant	rs4438331
Chromosome Location	chr16:74640386-74640387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74504176..74507094-chr16:74639050..74641052,2	MCF-7	breast:
2	chr16:74328724..74332172-chr16:74639853..74642931,3	MCF-7	breast:
3	chr16:74639429..74642265-chr16:74733307..74735919,2	MCF-7	breast:
4	chr16:74482713..74485167-chr16:74639325..74641867,3	MCF-7	breast:
5	chr16:74637522..74639307-chr16:74639433..74640969,2	K562	blood:
6	chr16:74489825..74492243-chr16:74640188..74642020,3	MCF-7	breast:
7	chr16:74619421..74621291-chr16:74638015..74640531,2	MCF-7	breast:
8	chr16:74596282..74598588-chr16:74639411..74642342,2	K562	blood:
9	chr16:74624724..74627496-chr16:74637454..74640972,3	MCF-7	breast:
10	chr16:74638982..74640991-chr16:74699176..74702351,3	K562	blood:
11	chr16:74626700..74628548-chr16:74638340..74640608,2	K562	blood:
12	chr16:74639550..74641581-chr16:74807384..74809629,2	MCF-7	breast:
13	chr16:74640131..74642133-chr16:74699118..74701416,2	MCF-7	breast:
14	chr16:74638992..74641071-chr16:74646319..74648284,3	MCF-7	breast:
15	chr16:74472914..74474525-chr16:74638693..74640770,2	MCF-7	breast:
16	chr16:74638616..74642828-chr16:74644117..74647520,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260539	Chromatin interaction
ENSG00000270945	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000251794	Chromatin interaction
ENSG00000168411	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000103089	Chromatin interaction
ENSG00000262904	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000261404	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 2 )

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	0.82[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];0.90[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	0.82[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	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs12921903	0.89[ASN][1000 genomes]
rs13339156	0.89[ASN][1000 genomes]
rs13339161	0.82[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	0.80[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs2288053	0.92[JPT][hapmap]
rs2303275	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs2303278	0.82[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	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4243108	0.82[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];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4344772	0.85[ASN][1000 genomes]
rs4548905	0.90[ASN][1000 genomes]
rs4564599	0.83[ASN][1000 genomes]
rs4600490	0.82[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap]
rs4887772	0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap]
rs4887776	0.82[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	0.82[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	0.82[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	0.82[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	0.82[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	0.82[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	0.82[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];0.89[AFR][1000 genomes];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];0.86[EUR][1000 genomes]
rs7203452	0.90[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap]
rs7204382	0.90[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	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7342732	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7978	0.85[JPT][hapmap]
rs8044278	0.94[AMR][1000 genomes];0.86[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];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[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	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8052923	0.82[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];0.86[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	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs9921672	0.88[ASN][1000 genomes]
rs9923145	0.85[JPT][hapmap]
rs9923616	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs9924716	0.93[AMR][1000 genomes];0.93[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]
rs9932831	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]
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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4438331	MLKL	cis	cerebellum	SCAN
rs4438331	MLKL	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74638200-74640600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr16:74638600-74641400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:74638600-74641400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:74638600-74641400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:74638600-74641400	Active TSS	HMEC	breast
6	chr16:74638600-74641600	Active TSS	Colonic Mucosa	Colon
7	chr16:74638600-74642200	Active TSS	Stomach Smooth Muscle	stomach
8	chr16:74638800-74641200	Active TSS	NHLF	lung
9	chr16:74638800-74641600	Active TSS	Right Ventricle	heart
10	chr16:74638800-74641800	Active TSS	GM12878-XiMat	blood
11	chr16:74639000-74641200	Active TSS	Primary T cells fromperipheralblood	blood
12	chr16:74639000-74641400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:74639000-74641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:74639000-74641600	Active TSS	Aorta	Aorta
15	chr16:74639000-74641600	Active TSS	Fetal Muscle Trunk	muscle
16	chr16:74639000-74641600	Active TSS	Psoas Muscle	Psoas
17	chr16:74639000-74641600	Active TSS	Right Atrium	heart
18	chr16:74639200-74640400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:74639200-74640400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:74639200-74640400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr16:74639200-74640600	Flanking Active TSS	Dnd41	blood
22	chr16:74639200-74641000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:74639200-74641200	Active TSS	Fetal Muscle Leg	muscle
24	chr16:74639200-74641400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr16:74639200-74641400	Active TSS	Fetal Intestine Small	intestine
26	chr16:74639200-74641400	Active TSS	HSMM	muscle
27	chr16:74639200-74641400	Active TSS	HSMMtube	muscle
28	chr16:74639200-74641400	Active TSS	NHDF-Ad	bronchial
29	chr16:74639200-74641600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr16:74639200-74641600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr16:74639200-74641600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr16:74639200-74641600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:74639200-74641600	Active TSS	Ovary	ovary
34	chr16:74639200-74641800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:74639200-74641800	Active TSS	Fetal Intestine Large	intestine
36	chr16:74639400-74640400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:74639400-74640600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr16:74639400-74640600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr16:74639400-74640600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr16:74639400-74640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:74639400-74640600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr16:74639400-74641200	Active TSS	Fetal Kidney	kidney
43	chr16:74639400-74641200	Active TSS	K562	blood
44	chr16:74639400-74641400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr16:74639400-74641400	Active TSS	Brain Substantia Nigra	brain
46	chr16:74639400-74641400	Active TSS	NHEK	skin
47	chr16:74639400-74641600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:74639400-74641800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr16:74639600-74640600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr16:74639600-74641200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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