Variant report

Variant	rs7185722
Chromosome Location	chr16:74655848-74655849
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	chr16:74649316..74653490-chr16:74654574..74658436,6	MCF-7	breast:
2	chr16:74639257..74644662-chr16:74649340..74660012,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10400930	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1138860	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12445991	0.81[ASN][1000 genomes]
rs12448026	0.80[ASN][1000 genomes]
rs12921903	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12935075	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13339156	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28377859	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28502731	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28683674	0.82[EUR][1000 genomes]
rs3923201	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4072222	0.85[ASN][1000 genomes]
rs4072450	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243108	0.89[ASN][1000 genomes]
rs4271617	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4286131	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4287593	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4302071	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4316784	0.89[ASN][1000 genomes]
rs4344772	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4438331	0.87[ASN][1000 genomes]
rs4462623	0.89[ASN][1000 genomes]
rs4544266	0.85[ASN][1000 genomes]
rs4548905	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4564599	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4600490	0.80[ASN][1000 genomes]
rs4887776	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887777	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887779	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888253	0.81[ASN][1000 genomes]
rs4888256	0.82[ASN][1000 genomes]
rs4888257	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888258	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888259	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888260	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4888266	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888270	0.88[ASN][1000 genomes]
rs57488599	0.85[ASN][1000 genomes]
rs58136167	0.86[ASN][1000 genomes]
rs62053563	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6564141	0.86[ASN][1000 genomes]
rs6564142	0.82[ASN][1000 genomes]
rs6564145	0.89[ASN][1000 genomes]
rs6564146	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564147	0.93[ASN][1000 genomes]
rs6564148	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564149	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564152	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564153	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564154	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564155	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6564157	0.82[ASN][1000 genomes]
rs71392603	0.86[ASN][1000 genomes]
rs7184754	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185026	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7190631	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7191754	0.87[ASN][1000 genomes]
rs7193423	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193508	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193583	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7193959	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7194143	0.89[ASN][1000 genomes]
rs7194687	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7195135	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7195499	0.89[ASN][1000 genomes]
rs7196627	0.83[ASN][1000 genomes]
rs7203452	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7204382	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7204804	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205258	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7205813	0.82[ASN][1000 genomes]
rs7342732	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8044278	0.83[ASN][1000 genomes]
rs8045848	0.87[ASN][1000 genomes]
rs8047243	0.90[ASN][1000 genomes]
rs8048133	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8048239	0.84[ASN][1000 genomes]
rs8048596	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8049056	0.86[ASN][1000 genomes]
rs8049138	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8050615	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8050624	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050668	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8050850	0.85[ASN][1000 genomes]
rs8051990	0.82[ASN][1000 genomes]
rs8052923	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8053084	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8053369	0.82[ASN][1000 genomes]
rs8054836	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8055784	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8055803	0.93[ASN][1000 genomes]
rs8056718	0.95[ASN][1000 genomes]
rs8056788	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8057279	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8058034	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8058437	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8058692	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8058922	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8062404	0.95[ASN][1000 genomes]
rs8062959	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9888950	0.81[ASN][1000 genomes]
rs9921672	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9923644	0.84[ASN][1000 genomes]
rs9924716	0.85[ASN][1000 genomes]
rs9925807	0.87[ASN][1000 genomes]
rs9927073	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9928181	0.94[ASN][1000 genomes]
rs9929483	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9929933	0.80[ASN][1000 genomes]
rs9930003	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9931225	0.83[ASN][1000 genomes]
rs9932831	0.87[ASN][1000 genomes]
rs9938833	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	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
8	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
9	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7185722	RFWD3	cis	Thyroid	GTEx
rs7185722	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx
rs7185722	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs7185722	RFWD3	cis	Esophagus Mucosa	GTEx
rs7185722	MLKL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74641400-74656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:74641600-74656000	Weak transcription	Aorta	Aorta
3	chr16:74641600-74657000	Weak transcription	Gastric	stomach
4	chr16:74641600-74657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:74641800-74656200	Weak transcription	HUVEC	blood vessel
6	chr16:74641800-74656600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:74642000-74656000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:74642000-74656000	Weak transcription	Left Ventricle	heart
9	chr16:74642000-74656800	Weak transcription	Liver	Liver
10	chr16:74642000-74657600	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:74642000-74658200	Weak transcription	Right Ventricle	heart
12	chr16:74642200-74656000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:74642200-74656000	Weak transcription	Fetal Kidney	kidney
14	chr16:74642200-74656000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:74642200-74656400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:74642200-74656400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr16:74642200-74657400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:74642200-74688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:74642400-74656200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:74642400-74656600	Weak transcription	HSMMtube	muscle
21	chr16:74642600-74657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:74643800-74657000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr16:74644600-74656600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr16:74644800-74656200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:74644800-74657000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:74646000-74656400	Weak transcription	NHLF	lung
27	chr16:74647000-74656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:74647600-74657600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:74647800-74691800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:74648800-74688400	Strong transcription	Dnd41	blood
31	chr16:74648800-74692200	Strong transcription	Fetal Thymus	thymus
32	chr16:74650800-74687400	Strong transcription	Thymus	Thymus
33	chr16:74651000-74691200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr16:74651200-74656400	Weak transcription	Brain Anterior Caudate	brain
35	chr16:74651200-74657000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr16:74652000-74656600	Weak transcription	Colon Smooth Muscle	Colon
37	chr16:74652000-74657000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:74652000-74664200	Weak transcription	Fetal Heart	heart
39	chr16:74652000-74674600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:74652000-74686000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr16:74652000-74692200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:74652200-74657000	Weak transcription	Esophagus	oesophagus
43	chr16:74652200-74657000	Weak transcription	Pancreas	Pancrea
44	chr16:74652200-74685600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:74652200-74687400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr16:74652200-74699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:74652400-74659400	Weak transcription	Small Intestine	intestine
48	chr16:74653000-74656400	Weak transcription	Brain Germinal Matrix	brain
49	chr16:74653000-74657000	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:74653000-74686800	Strong transcription	Primary T cells fromperipheralblood	blood

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