Variant report

Variant	rs2303278
Chromosome Location	chr16:74503860-74503861
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:74503860-74504010	GM12873	blood:	n/a	n/a
2	CTCF	chr16:74503820-74503970	NHEK	skin:	n/a	n/a
3	POLR2A	chr16:74503778-74503935	HepG2	liver:	n/a	n/a
4	CTCF	chr16:74503720-74503870	GM12868	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74495671..74500050-chr16:74503781..74507841,5	MCF-7	breast:
2	chr16:74501191..74504078-chr16:74504630..74507267,3	K562	blood:

Variant related genes	Relation type
GLG1	TF binding region
ENSG00000090863	Chromatin interaction
ENSG00000207525	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1019572	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1019573	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs10500587	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11149722	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs1132843	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11639812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11640021	0.88[ASN][1000 genomes]
rs11640632	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11641958	0.81[ASN][1000 genomes]
rs11643293	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11644298	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11647149	0.84[ASN][1000 genomes]
rs11648868	1.00[JPT][hapmap]
rs12325017	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12445991	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs12446054	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[ASN][1000 genomes]
rs12446095	0.85[ASN][1000 genomes]
rs12447531	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12448026	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs12449071	0.85[ASN][1000 genomes]
rs12449125	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12598701	0.80[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13339161	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13359	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1469140	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17672539	0.86[ASN][1000 genomes]
rs1820262	0.88[CEU][hapmap]
rs1985611	0.96[ASN][1000 genomes]
rs2098754	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2288053	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs2303275	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2303277	0.91[ASN][1000 genomes]
rs2303281	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs35209570	0.89[ASN][1000 genomes]
rs3785312	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3826239	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851729	0.92[JPT][hapmap];0.86[YRI][hapmap]
rs3851730	0.84[ASN][1000 genomes]
rs4072450	0.88[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap]
rs4243108	0.87[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4438331	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4600490	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4887772	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4887776	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4887777	0.84[CEU][hapmap];0.92[JPT][hapmap]
rs4887779	0.83[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs4888238	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4888240	0.84[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4888242	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888253	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4888256	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs4888262	0.92[JPT][hapmap]
rs4888265	0.85[JPT][hapmap]
rs4888266	0.88[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap]
rs4888267	0.83[JPT][hapmap]
rs6564117	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564154	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs7185026	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7189123	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7190577	0.83[ASN][1000 genomes]
rs7191665	0.92[JPT][hapmap]
rs7193583	0.83[CEU][hapmap]
rs7193959	0.84[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap]
rs7194143	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7195196	0.84[ASN][1000 genomes]
rs7195198	0.84[ASN][1000 genomes]
rs7201320	0.86[JPT][hapmap]
rs7203452	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs7204804	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs7205258	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7342732	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7978	0.86[JPT][hapmap];0.86[YRI][hapmap]
rs8045848	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs8050624	0.87[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs8052923	0.88[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap]
rs8053599	0.87[ASN][1000 genomes]
rs8055784	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs8058133	0.86[JPT][hapmap]
rs8058692	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs8058922	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs8059869	0.84[CEU][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs8062783	0.86[JPT][hapmap]
rs918782	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9888976	0.87[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs9923145	0.92[JPT][hapmap]
rs9923616	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9927073	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs9931225	0.92[JPT][hapmap]
rs9932831	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs9938833	0.91[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
5	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
6	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv2762054	chr16:74337036-74507056	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv428806	chr16:74394226-74580125	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv833278	chr16:74415944-74584123	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	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
12	nsv960357	chr16:74480805-74507776	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2303278	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx
rs2303278	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs2303278	RFWD3	cis	Esophagus Mucosa	GTEx
rs2303278	RFWD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74480400-74530800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:74480400-74530800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:74480400-74531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr16:74480600-74530600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr16:74480800-74530600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:74480800-74530800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:74481200-74520000	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:74481200-74520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:74481800-74519800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:74482000-74514600	Strong transcription	Fetal Thymus	thymus
11	chr16:74483000-74530600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:74483000-74530800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:74483200-74520000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr16:74483200-74520400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:74483800-74514400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:74483800-74530600	Strong transcription	Liver	Liver
17	chr16:74484000-74513600	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:74484200-74512200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:74484200-74516800	Strong transcription	Fetal Stomach	stomach
20	chr16:74484400-74512400	Strong transcription	Placenta	Placenta
21	chr16:74484400-74532200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr16:74485000-74530800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:74485200-74514800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:74485400-74512600	Strong transcription	Adipose Nuclei	Adipose
25	chr16:74485600-74542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:74485800-74506000	Strong transcription	Lung	lung
27	chr16:74485800-74511400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:74488600-74510600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr16:74488600-74510800	Strong transcription	Ovary	ovary
30	chr16:74488600-74512600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:74488600-74519800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:74488600-74520200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:74488800-74510800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr16:74488800-74512200	Strong transcription	Brain Anterior Caudate	brain
35	chr16:74488800-74512400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr16:74488800-74530600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:74489000-74508800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr16:74489000-74511600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr16:74489000-74520200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:74489200-74531000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:74489600-74510200	Strong transcription	Fetal Intestine Small	intestine
42	chr16:74489800-74506200	Strong transcription	HSMMtube	muscle
43	chr16:74490600-74507000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr16:74490800-74513800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:74493800-74510400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr16:74493800-74511400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:74494000-74504000	Strong transcription	Brain Germinal Matrix	brain
48	chr16:74494000-74505600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:74494200-74505800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr16:74494200-74508800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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