Variant report

Variant	rs4302071
Chromosome Location	chr16:74639545-74639546
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:74504176..74507094-chr16:74639050..74641052,2	MCF-7	breast:
2	chr16:74639429..74642265-chr16:74733307..74735919,2	MCF-7	breast:
3	chr16:74482713..74485167-chr16:74639325..74641867,3	MCF-7	breast:
4	chr16:74637522..74639307-chr16:74639433..74640969,2	K562	blood:
5	chr16:74619421..74621291-chr16:74638015..74640531,2	MCF-7	breast:
6	chr16:74596282..74598588-chr16:74639411..74642342,2	K562	blood:
7	chr16:74624724..74627496-chr16:74637454..74640972,3	MCF-7	breast:
8	chr16:74638982..74640991-chr16:74699176..74702351,3	K562	blood:
9	chr16:74626700..74628548-chr16:74638340..74640608,2	K562	blood:
10	chr16:74638992..74641071-chr16:74646319..74648284,3	MCF-7	breast:
11	chr16:74472914..74474525-chr16:74638693..74640770,2	MCF-7	breast:
12	chr16:74638616..74642828-chr16:74644117..74647520,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000262904	Chromatin interaction
ENSG00000168404	Chromatin interaction
ENSG00000260539	Chromatin interaction
ENSG00000090863	Chromatin interaction
ENSG00000168411	Chromatin interaction
ENSG00000270945	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10400930	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1138860	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12921903	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12935075	0.87[ASN][1000 genomes]
rs13339156	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28377859	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28502731	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28683674	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3923201	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4072222	0.83[ASN][1000 genomes]
rs4072450	0.83[ASN][1000 genomes]
rs4243108	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4271617	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4286131	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4287593	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4316784	0.88[ASN][1000 genomes]
rs4344772	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4438331	0.90[ASN][1000 genomes]
rs4462623	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4544266	0.81[ASN][1000 genomes]
rs4548905	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4564599	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4887776	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887777	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887779	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888256	0.81[EUR][1000 genomes]
rs4888257	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888258	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888260	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4888266	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4888270	0.87[ASN][1000 genomes]
rs57488599	0.83[ASN][1000 genomes]
rs58136167	0.84[ASN][1000 genomes]
rs62053563	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6564141	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6564145	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6564146	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564147	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564148	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564149	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564152	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564153	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564154	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6564155	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71392603	0.81[EUR][1000 genomes]
rs7184754	0.93[ASN][1000 genomes]
rs7185026	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7185722	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7190631	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7191754	0.81[ASN][1000 genomes]
rs7193423	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193508	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193583	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7193959	0.93[ASN][1000 genomes]
rs7194143	0.88[ASN][1000 genomes]
rs7194687	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195135	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195499	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7196627	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7203452	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7204382	0.82[EUR][1000 genomes]
rs7204804	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7205258	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7342732	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8045848	0.81[ASN][1000 genomes]
rs8047243	0.94[ASN][1000 genomes]
rs8047523	0.80[EUR][1000 genomes]
rs8048133	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8048239	0.80[ASN][1000 genomes]
rs8048596	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8049056	0.83[ASN][1000 genomes]
rs8049138	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8050615	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050624	0.90[ASN][1000 genomes]
rs8050668	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8050850	0.81[ASN][1000 genomes]
rs8052923	0.88[ASN][1000 genomes]
rs8053084	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8054836	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8055784	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8055803	0.94[ASN][1000 genomes]
rs8056718	0.92[ASN][1000 genomes]
rs8056788	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8057279	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8058034	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8058437	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058692	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8058922	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062404	0.92[ASN][1000 genomes]
rs8062959	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9921672	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9923644	0.80[ASN][1000 genomes]
rs9924716	0.84[ASN][1000 genomes]
rs9925807	0.81[ASN][1000 genomes]
rs9927073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9928181	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929483	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9930003	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9931225	0.82[ASN][1000 genomes]
rs9932831	0.90[ASN][1000 genomes]
rs9938833	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4302071	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs4302071	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs4302071	RFWD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
2	chr16:74631200-74639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:74634600-74640200	Weak transcription	Spleen	Spleen
4	chr16:74636200-74640000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:74637400-74639800	Enhancers	Small Intestine	intestine
6	chr16:74637400-74640000	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr16:74637600-74639800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr16:74637600-74639800	Weak transcription	Pancreas	Pancrea
9	chr16:74637600-74639800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr16:74637600-74640000	Weak transcription	Lung	lung
11	chr16:74637800-74639600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr16:74637800-74640000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:74638200-74640600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr16:74638400-74639800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:74638600-74639800	Enhancers	Placenta	Placenta
16	chr16:74638600-74641400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:74638600-74641400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:74638600-74641400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:74638600-74641400	Active TSS	HMEC	breast
20	chr16:74638600-74641600	Active TSS	Colonic Mucosa	Colon
21	chr16:74638600-74642200	Active TSS	Stomach Smooth Muscle	stomach
22	chr16:74638800-74640000	Weak transcription	Gastric	stomach
23	chr16:74638800-74640200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:74638800-74640200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr16:74638800-74641200	Active TSS	NHLF	lung
26	chr16:74638800-74641600	Active TSS	Right Ventricle	heart
27	chr16:74638800-74641800	Active TSS	GM12878-XiMat	blood
28	chr16:74639000-74639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:74639000-74639800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:74639000-74639800	Weak transcription	Left Ventricle	heart
31	chr16:74639000-74640200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr16:74639000-74641200	Active TSS	Primary T cells fromperipheralblood	blood
33	chr16:74639000-74641400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:74639000-74641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:74639000-74641600	Active TSS	Aorta	Aorta
36	chr16:74639000-74641600	Active TSS	Fetal Muscle Trunk	muscle
37	chr16:74639000-74641600	Active TSS	Psoas Muscle	Psoas
38	chr16:74639000-74641600	Active TSS	Right Atrium	heart
39	chr16:74639200-74639600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr16:74639200-74639600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:74639200-74639600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:74639200-74639600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr16:74639200-74639600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr16:74639200-74639600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:74639200-74639600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr16:74639200-74639600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:74639200-74639600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr16:74639200-74639600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr16:74639200-74639600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:74639200-74639600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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