Variant report

Variant	rs7196369
Chromosome Location	chr16:74710728-74710729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74700450..74705009-chr16:74710570..74714672,7	MCF-7	breast:
2	chr16:74699432..74702199-chr16:74708943..74711933,3	MCF-7	breast:
3	chr16:74708894..74711247-chr16:74711417..74714110,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLKL-1	chr16:74709253-74712311	NONHSAT143701

Variant related genes	Relation type
ENSG00000262904	Chromatin interaction
ENSG00000168411	Chromatin interaction
ENSG00000168404	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12445991	0.85[JPT][hapmap]
rs12448026	0.85[JPT][hapmap]
rs35505591	0.84[EUR][1000 genomes]
rs4072222	0.87[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4243108	0.82[CHD][hapmap]
rs4438331	0.85[JPT][hapmap]
rs4476202	0.96[ASN][1000 genomes]
rs4887776	0.85[JPT][hapmap]
rs4887777	0.85[JPT][hapmap]
rs4887779	0.85[JPT][hapmap]
rs4887784	0.86[JPT][hapmap]
rs4888266	0.85[JPT][hapmap]
rs4888270	0.80[ASN][1000 genomes]
rs57488599	0.83[ASN][1000 genomes]
rs58136167	0.82[ASN][1000 genomes]
rs6564154	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs6564157	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6564159	0.85[JPT][hapmap]
rs7193959	0.85[JPT][hapmap]
rs7194143	0.85[JPT][hapmap]
rs7204382	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7204804	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs7205258	0.85[JPT][hapmap]
rs7342732	0.82[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs8050624	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs8052923	0.85[JPT][hapmap]
rs8055784	0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs8058692	0.85[JPT][hapmap]
rs8058922	0.82[CHD][hapmap]
rs9927073	0.85[JPT][hapmap]
rs9929483	0.82[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9931225	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs9932831	0.85[JPT][hapmap]
rs9938833	0.82[CHD][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	esv275138	chr16:74647795-74722907	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv2760414	chr16:74647795-74741615	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	67 gene(s)	inside rSNPs	diseases
7	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
8	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7196369	FA2H	cis	cerebellum	SCAN
rs7196369	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs7196369	TXNL4B	cis	cerebellum	SCAN
rs7196369	MLKL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74701600-74712000	Weak transcription	Pancreas	Pancrea
2	chr16:74701600-74730000	Weak transcription	Stomach Mucosa	stomach
3	chr16:74701800-74711400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:74701800-74712800	Weak transcription	Placenta	Placenta
5	chr16:74701800-74715400	Weak transcription	Brain Angular Gyrus	brain
6	chr16:74701800-74724600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:74701800-74725400	Weak transcription	Ovary	ovary
8	chr16:74701800-74725400	Weak transcription	NHLF	lung
9	chr16:74701800-74729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:74701800-74729800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:74701800-74730000	Weak transcription	Brain Substantia Nigra	brain
12	chr16:74701800-74734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:74702000-74711200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:74702000-74711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:74702000-74712000	Weak transcription	Right Ventricle	heart
16	chr16:74702000-74712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:74702000-74713400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:74702000-74713600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:74702000-74725000	Weak transcription	Fetal Intestine Large	intestine
20	chr16:74702000-74725200	Weak transcription	Fetal Muscle Leg	muscle
21	chr16:74702000-74725200	Weak transcription	NHDF-Ad	bronchial
22	chr16:74702000-74725400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:74702000-74729600	Weak transcription	Brain Anterior Caudate	brain
24	chr16:74702000-74730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:74705000-74725000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr16:74705200-74710800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:74705200-74713600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:74705200-74717200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:74705200-74718000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:74705400-74710800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:74705400-74713400	Strong transcription	Hela-S3	cervix
32	chr16:74705400-74714400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr16:74705400-74714800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:74705400-74717000	Strong transcription	Primary T cells from cord blood	blood
35	chr16:74705400-74718200	Strong transcription	Lung	lung
36	chr16:74705400-74719600	Strong transcription	Liver	Liver
37	chr16:74705400-74719800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:74705400-74719800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:74705400-74720000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:74705400-74723000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:74705400-74727200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:74705400-74728600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr16:74705400-74729200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr16:74705400-74729200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr16:74705400-74729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:74705400-74729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:74705600-74710800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:74705600-74713600	Strong transcription	Adipose Nuclei	Adipose
49	chr16:74705600-74714600	Strong transcription	Thymus	Thymus
50	chr16:74705600-74720000	Strong transcription	Duodenum Mucosa	Duodenum

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