Variant report

Variant	rs10871295
Chromosome Location	chr16:74724933-74724934
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	chr16:74723808..74726958-chr16:74731892..74736010,4	K562	blood:

Variant related genes	Relation type
ENSG00000168404	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12445991	0.83[CEU][hapmap]
rs12448026	0.82[TSI][hapmap]
rs4072450	0.81[CEU][hapmap];0.82[JPT][hapmap]
rs4243108	0.81[CEU][hapmap]
rs4636931	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4888256	0.82[TSI][hapmap]
rs4888266	0.81[CEU][hapmap]
rs7185026	0.82[TSI][hapmap]
rs7203452	0.82[TSI][hapmap]
rs7342732	0.81[CEU][hapmap]
rs8050624	0.81[CEU][hapmap]
rs8052923	0.81[CEU][hapmap]
rs8058692	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	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
8	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
9	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10871295	MLKL	cis	multi-tissue	Pritchard
rs10871295	RFWD3	cis	multi-tissue	Pritchard
rs10871295	RFWD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74701600-74730000	Weak transcription	Stomach Mucosa	stomach
2	chr16:74701800-74725400	Weak transcription	Ovary	ovary
3	chr16:74701800-74725400	Weak transcription	NHLF	lung
4	chr16:74701800-74729600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:74701800-74729800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:74701800-74730000	Weak transcription	Brain Substantia Nigra	brain
7	chr16:74701800-74734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:74702000-74725000	Weak transcription	Fetal Intestine Large	intestine
9	chr16:74702000-74725200	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:74702000-74725200	Weak transcription	NHDF-Ad	bronchial
11	chr16:74702000-74725400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:74702000-74729600	Weak transcription	Brain Anterior Caudate	brain
13	chr16:74702000-74730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:74705000-74725000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:74705400-74727200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:74705400-74728600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:74705400-74729200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:74705400-74729200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:74705400-74729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:74705400-74729600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:74706400-74730000	Weak transcription	NH-A	brain
22	chr16:74707000-74729600	Weak transcription	Colon Smooth Muscle	Colon
23	chr16:74709400-74725200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:74709600-74725400	Weak transcription	Left Ventricle	heart
25	chr16:74710000-74725000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:74711600-74729600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:74712200-74725200	Weak transcription	NHEK	skin
28	chr16:74713200-74725200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr16:74714000-74725200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr16:74714000-74729800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:74714000-74733600	Weak transcription	Right Ventricle	heart
32	chr16:74714200-74725200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr16:74714200-74729800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr16:74714600-74729800	Weak transcription	Thymus	Thymus
35	chr16:74714800-74725000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr16:74714800-74729800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr16:74715000-74725000	Weak transcription	Small Intestine	intestine
38	chr16:74715000-74725400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr16:74715400-74725200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:74715400-74725200	Weak transcription	Fetal Stomach	stomach
41	chr16:74717800-74725200	Weak transcription	HSMM	muscle
42	chr16:74718000-74729800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:74718200-74725200	Weak transcription	Gastric	stomach
44	chr16:74718400-74725200	Weak transcription	Esophagus	oesophagus
45	chr16:74718400-74729800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr16:74718800-74729600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr16:74719600-74725000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:74720200-74725400	Weak transcription	Fetal Intestine Small	intestine
49	chr16:74720400-74729400	Strong transcription	Liver	Liver
50	chr16:74721000-74727000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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