Variant report

Variant	rs7195135
Chromosome Location	chr16:74645166-74645167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74638616..74642828-chr16:74644117..74647520,5	K562	blood:
2	chr16:74640712..74642393-chr16:74644183..74645787,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10400930	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1138860	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12921903	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12935075	0.86[ASN][1000 genomes]
rs13339156	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28377859	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28502731	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28683674	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3923201	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4072450	0.82[ASN][1000 genomes]
rs4243108	0.84[ASN][1000 genomes]
rs4271617	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4286131	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4287593	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4302071	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4316784	0.89[ASN][1000 genomes]
rs4344772	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4438331	0.86[ASN][1000 genomes]
rs4462623	0.84[ASN][1000 genomes]
rs4544266	0.80[ASN][1000 genomes]
rs4548905	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4564599	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887776	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887777	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887779	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888256	0.81[EUR][1000 genomes]
rs4888257	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888258	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888259	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888260	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4888266	0.86[ASN][1000 genomes]
rs4888270	0.83[ASN][1000 genomes]
rs58136167	0.81[ASN][1000 genomes]
rs62053563	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6564141	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564145	0.89[ASN][1000 genomes]
rs6564146	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564147	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6564148	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564149	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564152	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564153	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564154	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564155	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71392603	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7184754	0.91[ASN][1000 genomes]
rs7185026	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7185722	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190631	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7191754	0.82[ASN][1000 genomes]
rs7193423	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193508	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193583	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7193959	0.91[ASN][1000 genomes]
rs7194143	0.89[ASN][1000 genomes]
rs7194687	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7195499	0.84[ASN][1000 genomes]
rs7196627	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7203452	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7204382	0.83[EUR][1000 genomes]
rs7204804	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7205258	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7342732	0.83[ASN][1000 genomes]
rs8045848	0.82[ASN][1000 genomes]
rs8047243	0.90[ASN][1000 genomes]
rs8047523	0.81[EUR][1000 genomes]
rs8048133	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8048596	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8049056	0.82[ASN][1000 genomes]
rs8049138	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8050615	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8050624	0.89[ASN][1000 genomes]
rs8050668	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8052923	0.87[ASN][1000 genomes]
rs8053084	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8054836	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8055784	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8055803	0.93[ASN][1000 genomes]
rs8056718	0.90[ASN][1000 genomes]
rs8056788	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8057279	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8058034	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8058437	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8058692	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8058922	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8062404	0.90[ASN][1000 genomes]
rs8062959	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9921672	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9924716	0.85[ASN][1000 genomes]
rs9925807	0.81[ASN][1000 genomes]
rs9927073	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9928181	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9929483	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9930003	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9932831	0.86[ASN][1000 genomes]
rs9938833	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv974837	chr16:74642496-74646718	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7195135	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs7195135	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs7195135	RFWD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74641200-74653800	Weak transcription	Spleen	Spleen
2	chr16:74641400-74655800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:74641400-74656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:74641600-74651000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:74641600-74656000	Weak transcription	Aorta	Aorta
6	chr16:74641600-74657000	Weak transcription	Gastric	stomach
7	chr16:74641600-74657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:74641800-74653600	Weak transcription	GM12878-XiMat	blood
9	chr16:74641800-74654600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:74641800-74655200	Weak transcription	Primary B cells from cord blood	blood
11	chr16:74641800-74655400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:74641800-74655400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:74641800-74655800	Weak transcription	NHEK	skin
14	chr16:74641800-74656200	Weak transcription	HUVEC	blood vessel
15	chr16:74641800-74656600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr16:74642000-74645600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:74642000-74647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:74642000-74651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr16:74642000-74652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr16:74642000-74653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:74642000-74654400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:74642000-74655200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:74642000-74655200	Weak transcription	Fetal Brain Female	brain
24	chr16:74642000-74655800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:74642000-74656000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:74642000-74656000	Weak transcription	Left Ventricle	heart
27	chr16:74642000-74656800	Weak transcription	Liver	Liver
28	chr16:74642000-74657600	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:74642000-74658200	Weak transcription	Right Ventricle	heart
30	chr16:74642200-74645400	Weak transcription	NHLF	lung
31	chr16:74642200-74645800	Weak transcription	Osteobl	bone
32	chr16:74642200-74646400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr16:74642200-74647400	Weak transcription	Psoas Muscle	Psoas
34	chr16:74642200-74647600	Weak transcription	A549	lung
35	chr16:74642200-74648600	Weak transcription	Fetal Stomach	stomach
36	chr16:74642200-74648800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr16:74642200-74652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:74642200-74652000	Weak transcription	Fetal Intestine Large	intestine
39	chr16:74642200-74653200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:74642200-74653600	Weak transcription	NH-A	brain
41	chr16:74642200-74654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:74642200-74654400	Weak transcription	HMEC	breast
43	chr16:74642200-74654600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr16:74642200-74655200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr16:74642200-74655200	Weak transcription	HSMM	muscle
46	chr16:74642200-74655200	Weak transcription	NHDF-Ad	bronchial
47	chr16:74642200-74655800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:74642200-74656000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr16:74642200-74656000	Weak transcription	Fetal Kidney	kidney
50	chr16:74642200-74656000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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